Variant report

Variant	rs6681071
Chromosome Location	chr1:151231546-151231547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	1:151219411-151234038..1:151592347-151603110	K562	blood:
2	1:151171193-151178589..1:151219411-151234038	GM12878	blood:
3	chr1:151231517..151234313-chr1:151236642..151238843,2	K562	blood:
4	chr1:151230341..151233216-chr1:151253682..151256078,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159352	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000232671	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10749660	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10788803	0.88[ASN][1000 genomes]
rs10888406	0.81[EUR][1000 genomes]
rs10888408	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10888409	0.85[ASN][1000 genomes]
rs10888410	0.84[ASN][1000 genomes]
rs11204785	0.83[EUR][1000 genomes]
rs11204791	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204795	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11807075	0.82[EUR][1000 genomes]
rs12022732	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12040384	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12048670	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12062719	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12080778	0.92[EUR][1000 genomes]
rs12407426	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16827941	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16833079	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1892196	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2275900	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41302131	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4246525	0.82[ASN][1000 genomes]
rs4291501	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4520422	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4522000	0.86[ASN][1000 genomes]
rs4970944	0.83[EUR][1000 genomes]
rs4970948	0.84[ASN][1000 genomes]
rs4971013	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4971015	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4971016	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4971021	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4971023	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4971025	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4971026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4971027	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4971030	0.84[ASN][1000 genomes]
rs4971032	0.84[ASN][1000 genomes]
rs58323986	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61817972	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6587559	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587562	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6681163	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683396	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6686402	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6695344	0.90[ASN][1000 genomes]
rs6701325	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7518924	0.84[ASN][1000 genomes]
rs7521064	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7527032	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7532935	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7539584	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7544947	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs943637	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151227600-151236200	Weak transcription	Spleen	Spleen
2	chr1:151228000-151234600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151228000-151236200	Weak transcription	Gastric	stomach
4	chr1:151228200-151231600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:151228200-151234600	Weak transcription	Ovary	ovary
6	chr1:151228200-151236400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151228200-151237000	Weak transcription	Fetal Kidney	kidney
8	chr1:151228400-151231800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:151228400-151232800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:151228400-151234200	Weak transcription	Fetal Thymus	thymus
11	chr1:151228400-151234400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:151228400-151234400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:151228400-151234400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:151228400-151234400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:151228400-151234400	Weak transcription	Thymus	Thymus
16	chr1:151228400-151234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:151228400-151234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:151228400-151234600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:151228400-151234600	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:151228400-151234600	Weak transcription	Brain Substantia Nigra	brain
21	chr1:151228400-151234600	Weak transcription	Fetal Brain Female	brain
22	chr1:151228400-151234600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:151228400-151234600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:151228400-151234600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:151228400-151234800	Weak transcription	Colonic Mucosa	Colon
26	chr1:151228400-151234800	Weak transcription	Fetal Intestine Large	intestine
27	chr1:151228400-151236200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:151228400-151236200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:151228400-151236400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:151228400-151236400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:151228400-151236400	Weak transcription	Aorta	Aorta
32	chr1:151228400-151236400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:151228400-151236400	Weak transcription	HSMMtube	muscle
34	chr1:151228400-151236400	Weak transcription	NHDF-Ad	bronchial
35	chr1:151228400-151236600	Weak transcription	Pancreas	Pancrea
36	chr1:151228400-151238200	Weak transcription	Small Intestine	intestine
37	chr1:151228400-151238400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:151228400-151244000	Weak transcription	Right Atrium	heart
39	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
40	chr1:151228600-151231600	Weak transcription	HMEC	breast
41	chr1:151228600-151232800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:151228600-151233800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:151228600-151234000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:151228600-151234000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:151228600-151234000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:151228600-151234000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:151228600-151234200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:151228600-151234200	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:151228600-151234400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:151228600-151234400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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