Variant report

Variant	rs3177656
Chromosome Location	chr7:50505248-50505249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50504022..50506290-chr7:50516544..50518848,2	K562	blood:
2	chr7:50489145..50491557-chr7:50503922..50506424,2	MCF-7	breast:
3	chr7:50505120..50506790-chr7:50508425..50510796,2	K562	blood:

Variant related genes	Relation type
ENSG00000132436	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10268819	1.00[JPT][hapmap]
rs10499696	1.00[JPT][hapmap]
rs1107743	1.00[JPT][hapmap]
rs11575282	1.00[JPT][hapmap]
rs11575286	1.00[JPT][hapmap]
rs11575298	1.00[JPT][hapmap]
rs11575313	1.00[JPT][hapmap]
rs11575321	1.00[JPT][hapmap]
rs11575322	1.00[JPT][hapmap]
rs11575342	1.00[JPT][hapmap]
rs11575404	1.00[JPT][hapmap]
rs11575548	1.00[JPT][hapmap]
rs11575553	1.00[JPT][hapmap]
rs11771818	1.00[JPT][hapmap]
rs1349491	1.00[JPT][hapmap]
rs1466163	1.00[JPT][hapmap]
rs17553036	1.00[JPT][hapmap]
rs17553791	1.00[JPT][hapmap]
rs17634717	1.00[JPT][hapmap]
rs17634771	1.00[JPT][hapmap]
rs17634958	1.00[JPT][hapmap]
rs17635123	1.00[JPT][hapmap]
rs2242041	1.00[JPT][hapmap]
rs2329367	1.00[JPT][hapmap]
rs2715126	1.00[JPT][hapmap]
rs2876830	1.00[JPT][hapmap]
rs3807553	1.00[JPT][hapmap]
rs4132098	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55747400	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55875212	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56100697	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56278999	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3177656	ZNFN1A1	cis	multi-tissue	Pritchard

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50486200-50513200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50493400-50505800	Weak transcription	Thymus	Thymus
3	chr7:50495200-50505800	Weak transcription	Fetal Intestine Large	intestine
4	chr7:50495200-50513000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:50495200-50517200	Weak transcription	Stomach Mucosa	stomach
6	chr7:50495600-50513800	Weak transcription	HepG2	liver
7	chr7:50496000-50513000	Weak transcription	Gastric	stomach
8	chr7:50496200-50517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:50496800-50505800	Weak transcription	GM12878-XiMat	blood
10	chr7:50498000-50506800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:50499400-50506000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:50499400-50513000	Weak transcription	Psoas Muscle	Psoas
13	chr7:50499600-50505400	Weak transcription	Fetal Lung	lung
14	chr7:50499800-50506400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:50500000-50505600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:50500000-50513400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:50500400-50505600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:50500600-50513000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:50501000-50517400	Weak transcription	Esophagus	oesophagus
20	chr7:50502000-50505800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:50502200-50513600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:50502400-50517200	Weak transcription	Small Intestine	intestine
23	chr7:50503000-50513000	Weak transcription	Spleen	Spleen
24	chr7:50503200-50506000	Weak transcription	Primary B cells from cord blood	blood
25	chr7:50503400-50505600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:50503400-50505600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:50503400-50505800	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:50503400-50507400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:50503600-50505800	Weak transcription	Aorta	Aorta
30	chr7:50503600-50512800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:50503800-50505600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:50503800-50505800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:50503800-50505800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:50503800-50505800	Weak transcription	Fetal Stomach	stomach
35	chr7:50503800-50505800	Weak transcription	Lung	lung
36	chr7:50503800-50505800	Weak transcription	Ovary	ovary
37	chr7:50503800-50511600	Weak transcription	K562	blood
38	chr7:50503800-50512400	Weak transcription	Placenta	Placenta
39	chr7:50504000-50505600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:50504000-50505600	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:50504000-50505800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:50504000-50505800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:50504000-50505800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:50504000-50505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:50504000-50506000	Weak transcription	Fetal Brain Male	brain
46	chr7:50504200-50505800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:50504200-50505800	Weak transcription	Brain Anterior Caudate	brain
48	chr7:50504200-50505800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:50504200-50505800	Weak transcription	Fetal Kidney	kidney
50	chr7:50504200-50505800	Weak transcription	HSMM	muscle

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