Variant report

Variant	rs2787551
Chromosome Location	chr6:106762118-106762119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:106761297..106762894-chr6:106764655..106766235,2	K562	blood:
2	chr6:106756472..106759441-chr6:106761621..106763989,2	K562	blood:
3	chr6:106757150..106763241-chr6:106770428..106774915,9	MCF-7	breast:
4	chr6:106758772..106760743-chr6:106761718..106763978,2	MCF-7	breast:
5	chr6:106750271..106753940-chr6:106760573..106763415,3	K562	blood:
6	chr6:106761253..106763189-chr6:106763924..106766498,3	MCF-7	breast:
7	chr6:106759060..106762188-chr6:106770312..106774543,4	MCF-7	breast:
8	chr6:106757707..106762317-chr6:106772062..106775183,5	K562	blood:
9	chr6:106571937..106574658-chr6:106760869..106763793,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000252444	Chromatin interaction
ENSG00000057663	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10484575	0.96[ASN][1000 genomes]
rs11754416	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756379	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756420	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759048	0.96[ASN][1000 genomes]
rs11760170	0.96[ASN][1000 genomes]
rs11961415	0.96[ASN][1000 genomes]
rs1623780	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624009	0.96[ASN][1000 genomes]
rs1624701	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626224	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626503	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1627312	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17488854	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513225	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766196	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766199	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1766200	0.96[ASN][1000 genomes]
rs1766205	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1769962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769963	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769964	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769968	0.96[ASN][1000 genomes]
rs1769970	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769971	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769972	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769974	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769975	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769978	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1769981	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832408	0.92[ASN][1000 genomes]
rs2743560	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743562	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743563	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743564	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757132	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757133	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763210	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763211	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763212	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763215	0.96[ASN][1000 genomes]
rs2763216	0.96[ASN][1000 genomes]
rs2763217	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763218	0.96[ASN][1000 genomes]
rs2763221	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787521	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787525	0.96[ASN][1000 genomes]
rs2787527	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787528	0.96[ASN][1000 genomes]
rs2787529	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2787530	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787531	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787535	0.96[ASN][1000 genomes]
rs2787536	0.96[ASN][1000 genomes]
rs2787538	0.96[ASN][1000 genomes]
rs2787539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787540	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787543	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787544	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787547	0.96[ASN][1000 genomes]
rs2787548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787553	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2791114	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2791116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853338	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853340	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827647	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292420	0.96[ASN][1000 genomes]
rs4310087	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607457	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs543465	0.96[ASN][1000 genomes]
rs577707	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595875	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626664	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676099	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687709	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920944	0.96[ASN][1000 genomes]
rs6930834	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73520690	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522606	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522607	0.96[ASN][1000 genomes]
rs73522610	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522612	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522614	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522619	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522625	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522642	0.96[ASN][1000 genomes]
rs73522648	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs796707	0.96[ASN][1000 genomes]
rs960323	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106699200-106767400	Weak transcription	Stomach Mucosa	stomach
2	chr6:106711600-106762800	Weak transcription	Pancreas	Pancrea
3	chr6:106711600-106762800	Weak transcription	Right Ventricle	heart
4	chr6:106718000-106771600	Weak transcription	Fetal Brain Female	brain
5	chr6:106723000-106771800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:106727400-106762200	Weak transcription	Ovary	ovary
7	chr6:106734800-106762800	Weak transcription	Gastric	stomach
8	chr6:106734800-106771800	Weak transcription	Esophagus	oesophagus
9	chr6:106735200-106773000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:106739800-106762800	Weak transcription	Lung	lung
11	chr6:106740000-106771400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:106740000-106773000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:106740200-106762200	Weak transcription	Thymus	Thymus
14	chr6:106740200-106771400	Weak transcription	Small Intestine	intestine
15	chr6:106740400-106762200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:106741000-106772200	Weak transcription	Fetal Lung	lung
17	chr6:106741200-106771400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:106748800-106762200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:106751800-106771400	Weak transcription	Brain Germinal Matrix	brain
20	chr6:106755200-106762200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:106755200-106763600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr6:106755800-106762400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:106757800-106771600	Weak transcription	Spleen	Spleen
24	chr6:106758200-106762800	Weak transcription	Aorta	Aorta
25	chr6:106758200-106762800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:106758200-106762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:106758200-106763000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:106758200-106763800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:106758200-106763800	Weak transcription	Fetal Heart	heart
30	chr6:106758200-106771400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:106758200-106772000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:106758400-106762800	Weak transcription	Liver	Liver
33	chr6:106758600-106762400	Weak transcription	NH-A	brain
34	chr6:106758600-106762600	Weak transcription	HepG2	liver
35	chr6:106758800-106762400	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:106758800-106764400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:106758800-106771400	Weak transcription	Brain Anterior Caudate	brain
38	chr6:106759000-106763200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr6:106759000-106764000	Strong transcription	Dnd41	blood
40	chr6:106759200-106764000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr6:106759200-106764000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr6:106759400-106762800	Weak transcription	Brain Angular Gyrus	brain
43	chr6:106759400-106771600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:106759400-106771600	Weak transcription	Brain Substantia Nigra	brain
45	chr6:106759600-106762800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr6:106759600-106764000	Weak transcription	A549	lung
47	chr6:106759600-106772000	Weak transcription	NHLF	lung
48	chr6:106760200-106764000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:106760200-106764000	Weak transcription	HSMMtube	muscle
50	chr6:106760400-106764000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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