Variant report

Variant	rs6685797
Chromosome Location	chr1:156127202-156127203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr1:156127124-156127754	GM12878	blood:	n/a	n/a
2	ATF2	chr1:156127153-156127666	GM12878	blood:	n/a	n/a
3	MTA3	chr1:156127100-156127869	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:156124891..156128031-chr1:156162189..156164183,3	MCF-7	breast:
2	chr1:156123079..156127496-chr1:156128511..156132258,8	MCF-7	breast:
3	chr1:156119158..156125427-chr1:156125836..156129976,7	K562	blood:
4	chr1:156127190..156128698-chr1:156212571..156214890,2	K562	blood:

Variant related genes	Relation type
SEMA4A	TF binding region
ENSG00000196189	Chromatin interaction
ENSG00000160785	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1003725	1.00[AMR][1000 genomes]
rs57162247	1.00[AMR][1000 genomes]
rs57875392	1.00[AMR][1000 genomes]
rs59417251	1.00[AMR][1000 genomes]
rs61290992	1.00[AMR][1000 genomes]
rs6689656	1.00[AMR][1000 genomes]
rs73004969	1.00[AMR][1000 genomes]
rs7512584	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	380 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156116600-156131000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:156117000-156127400	Weak transcription	Lung	lung
3	chr1:156117000-156129600	Weak transcription	Right Ventricle	heart
4	chr1:156118200-156127800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:156118400-156127600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:156118400-156130400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:156120800-156130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:156121200-156127800	Weak transcription	Brain Germinal Matrix	brain
9	chr1:156121200-156129000	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:156121200-156129800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:156121200-156129800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:156121200-156130000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:156121400-156129800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:156122600-156129600	Weak transcription	Brain Substantia Nigra	brain
15	chr1:156122600-156130200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:156122600-156130400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:156122800-156128600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:156122800-156129200	Weak transcription	NHDF-Ad	bronchial
19	chr1:156122800-156129800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:156122800-156130000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:156122800-156130400	Weak transcription	Fetal Brain Male	brain
22	chr1:156123400-156130400	Weak transcription	Fetal Kidney	kidney
23	chr1:156123600-156130200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:156123600-156130200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:156124000-156147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:156124200-156127400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:156124200-156131200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:156124200-156147600	Weak transcription	HMEC	breast
29	chr1:156124400-156130400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:156124600-156127400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:156124800-156130400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:156125000-156128800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:156125200-156128000	Weak transcription	Spleen	Spleen
34	chr1:156125600-156129800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:156125600-156130400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:156125800-156127800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:156126000-156127400	Weak transcription	Placenta	Placenta
38	chr1:156126000-156128000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr1:156126000-156128000	Weak transcription	Fetal Brain Female	brain
40	chr1:156126000-156129000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:156126000-156129200	Weak transcription	HUVEC	blood vessel
42	chr1:156126000-156129800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:156126000-156129800	Weak transcription	Gastric	stomach
44	chr1:156126000-156130000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:156126000-156130200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:156126000-156130600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:156126200-156127400	Weak transcription	Esophagus	oesophagus
48	chr1:156126200-156128000	Enhancers	Primary B cells from peripheral blood	blood
49	chr1:156126200-156129800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:156126200-156129800	Weak transcription	Brain Anterior Caudate	brain

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