Variant report

Variant	rs73103770
Chromosome Location	chr7:33052543-33052544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33049778..33053350-chr7:33054534..33056757,3	K562	blood:

Variant related genes	Relation type
ENSG00000122643	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1127607	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473365	1.00[ASN][1000 genomes]
rs67608094	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953448	1.00[ASN][1000 genomes]
rs73093571	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73095309	1.00[ASN][1000 genomes]
rs73095315	1.00[ASN][1000 genomes]
rs73095326	1.00[ASN][1000 genomes]
rs73095361	1.00[ASN][1000 genomes]
rs73095378	1.00[ASN][1000 genomes]
rs73096233	1.00[ASN][1000 genomes]
rs73098230	1.00[ASN][1000 genomes]
rs73098242	1.00[ASN][1000 genomes]
rs73098252	1.00[ASN][1000 genomes]
rs73098273	1.00[ASN][1000 genomes]
rs73105656	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73107303	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73107315	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7801939	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv14217	chr7:32999213-33053044	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33003800-33064200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:33012200-33056400	Weak transcription	Fetal Kidney	kidney
3	chr7:33012600-33077600	Weak transcription	Psoas Muscle	Psoas
4	chr7:33015200-33053200	Weak transcription	Brain Anterior Caudate	brain
5	chr7:33020400-33052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:33024000-33064400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:33026400-33052800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:33038200-33052800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:33038200-33055000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:33038200-33080800	Weak transcription	Fetal Brain Male	brain
11	chr7:33038600-33053000	Weak transcription	HMEC	breast
12	chr7:33038800-33052800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:33038800-33052800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:33038800-33052800	Weak transcription	Colonic Mucosa	Colon
15	chr7:33038800-33053000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:33038800-33053000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:33038800-33054800	Weak transcription	NH-A	brain
18	chr7:33039000-33052600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:33039000-33053000	Weak transcription	NHDF-Ad	bronchial
20	chr7:33039200-33065000	Weak transcription	Brain Germinal Matrix	brain
21	chr7:33039400-33052600	Weak transcription	Fetal Lung	lung
22	chr7:33039400-33052800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:33039400-33052800	Weak transcription	Stomach Mucosa	stomach
24	chr7:33039400-33053000	Weak transcription	HepG2	liver
25	chr7:33039600-33052800	Weak transcription	Brain Substantia Nigra	brain
26	chr7:33040000-33057000	Weak transcription	HUVEC	blood vessel
27	chr7:33042600-33083200	Weak transcription	Small Intestine	intestine
28	chr7:33043000-33052800	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:33045200-33052600	Weak transcription	Aorta	Aorta
30	chr7:33045200-33052600	Weak transcription	Gastric	stomach
31	chr7:33045200-33052600	Weak transcription	Pancreas	Pancrea
32	chr7:33045200-33052600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:33045200-33052800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:33045200-33052800	Weak transcription	Esophagus	oesophagus
35	chr7:33045200-33053000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:33045200-33053000	Weak transcription	Right Ventricle	heart
37	chr7:33045200-33054600	Weak transcription	NHEK	skin
38	chr7:33045200-33066800	Weak transcription	HSMMtube	muscle
39	chr7:33045400-33055600	Weak transcription	Osteobl	bone
40	chr7:33046200-33062000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:33047000-33052800	Weak transcription	Spleen	Spleen
42	chr7:33047000-33053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:33047200-33053000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:33048400-33052600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:33048600-33052800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:33048800-33053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:33049000-33054400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:33049400-33052600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:33049600-33064600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:33049600-33067000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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