Variant report

Variant	rs74969407
Chromosome Location	chr1:9750815-9750816
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr1:9748978-9750817	H1-hESC	embryonic stem cell:	n/a	chr1:9750298-9750311 chr1:9750560-9750574
2	MXI1	chr1:9749957-9751852	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:9750773-9750835	GM12878	blood:	n/a	n/a
4	ELF1	chr1:9750504-9751086	GM12878	blood:	n/a	n/a
5	MAZ	chr1:9746682-9751668	IMR90	lung:	n/a	chr1:9747639-9747648 chr1:9749944-9749954 chr1:9747642-9747652

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:9750813-9750863	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:9750813-9750863	AG09309	skin:	n/a
3	chr1:9750813-9750863	MCF10A-Er-Src	breast:	n/a
4	chr1:9750813-9750863	HCF	heart:	n/a
5	chr1:9750813-9750863	AG04449	skin:	fetal
6	chr1:9750813-9750863	MCF-7	breast:	n/a
7	chr1:9750813-9750863	ovcar-3	ovarian:	n/a
8	chr1:9750813-9750863	U87	brain:	n/a
9	chr1:9750813-9750863	RPTEC	kidney:	n/a
10	chr1:9750813-9750863	HAEpiC	amniotic membrane:	n/a
11	chr1:9750813-9750863	SK-N-SH_RA	brain:	n/a
12	chr1:9750813-9750863	HL-60	blood:	n/a
13	chr1:9750813-9750863	K562	blood:	n/a
14	chr1:9750813-9750863	AG09319	gingival:	n/a
15	chr1:9750813-9750863	SK-N-SH	brain:	n/a
16	chr1:9750813-9750863	PFSK-1	brain:	n/a
17	chr1:9750813-9750863	Hela-S3	cervix:	n/a
18	chr1:9750813-9750863	HepG2	liver:	n/a
19	chr1:9750813-9750863	ECC-1	luminal epithelium:	n/a
20	chr1:9750813-9750863	A549	lung:	n/a
21	chr1:9750813-9750863	Caco-2	colon:	n/a
22	chr1:9750813-9750863	GM12892	blood:	n/a
23	chr1:9750813-9750863	IMR90	lung:	fetal
24	chr1:9750813-9750863	SK-N-MC	brain:	n/a
25	chr1:9750813-9750863	GM12891	blood:	n/a
26	chr1:9750813-9750863	PANC-1	pancreas:	n/a
27	chr1:9750813-9750863	HIPEpiC	eye:	n/a
28	chr1:9750813-9750863	HMEC	breast:	n/a
29	chr1:9750813-9750863	HRPEpiC	eye:	n/a
30	chr1:9750813-9750863	HCM	heart:	n/a
31	chr1:9750813-9750863	HCPEpiC	choroid plexus:	n/a
32	chr1:9750813-9750863	CMK	blood:	n/a
33	chr1:9750813-9750863	NH-A	brain:	n/a
34	chr1:9750813-9750863	SKMC	muscle:	n/a
35	chr1:9750813-9750863	GM12878	blood:	n/a
36	chr1:9750813-9750863	NHDF-neo	bronchial:	n/a
37	chr1:9750813-9750863	Jurkat	blood:	n/a
38	chr1:9750813-9750863	SAEC	small airway:	n/a
39	chr1:9750813-9750863	PrEC	prostate:	n/a
40	chr1:9750813-9750863	NT2-D1	testis:	n/a
41	chr1:9750813-9750863	AG10803	skin:	n/a
42	chr1:9750813-9750863	HEK293	kidney:	embryo
43	chr1:9750813-9750863	HCT-116	colon:	n/a
44	chr1:9750813-9750863	HEEpiC	esophagus:	n/a
45	chr1:9750813-9750863	HRCEpiC	kidney:	n/a
46	chr1:9750813-9750863	BJ	skin:	n/a
47	chr1:9750813-9750863	GM19239	blood:	n/a
48	chr1:9750813-9750863	HUVEC	blood vessel:	n/a
49	chr1:9750813-9750863	BE2_C	brain:	n/a
50	chr1:9750813-9750863	AoSMC	blood vessel:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:9749593..9751802-chr1:9777886..9780307,2	K562	blood:
2	chr1:9716271..9718491-chr1:9750491..9752827,2	K562	blood:
3	chr1:9746126..9748956-chr1:9749457..9751271,2	MCF-7	breast:
4	chr1:9745914..9747829-chr1:9748443..9751067,2	K562	blood:
5	chr1:9750156..9751724-chr7:23568721..23571687,2	K562	blood:
6	chr1:9749103..9751299-chr1:9843003..9845112,2	K562	blood:
7	chr1:9748418..9751556-chr1:9755069..9757789,4	K562	blood:
8	chr1:9746141..9751802-chr1:9775034..9783332,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231789	TF binding region
ENSG00000231789	CpG island
ENSG00000171608	Chromatin interaction
ENSG00000164548	Chromatin interaction
ENSG00000231789	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3408612	chr1:9748390-9751238	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3426414	chr1:9748415-9751113	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3424708	chr1:9748735-9771466	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9747000-9751200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:9749000-9751600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:9749200-9751000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:9749200-9751000	Active TSS	Fetal Brain Female	brain
5	chr1:9749400-9751000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:9749400-9751600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:9750000-9751000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:9750000-9751000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr1:9750000-9751000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr1:9750000-9751000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:9750000-9751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:9750000-9751000	Flanking Active TSS	Fetal Thymus	thymus
13	chr1:9750000-9751200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:9750000-9751200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr1:9750000-9751200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:9750000-9751200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:9750000-9751200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:9750000-9751200	Flanking Active TSS	Osteobl	bone
19	chr1:9750000-9751400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:9750200-9751000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:9750200-9751000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:9750200-9751000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:9750200-9751000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr1:9750200-9751200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:9750200-9751400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:9750200-9751400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr1:9750200-9751400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr1:9750200-9751400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr1:9750200-9751400	Bivalent Enhancer	Placenta	Placenta
30	chr1:9750200-9751800	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:9750200-9751800	Enhancers	Fetal Brain Male	brain
32	chr1:9750200-9751800	Flanking Active TSS	NH-A	brain
33	chr1:9750200-9754200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:9750400-9751000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr1:9750400-9751000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr1:9750400-9751000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr1:9750400-9751000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:9750400-9751000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
39	chr1:9750400-9751000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr1:9750400-9751000	Enhancers	Lung	lung
41	chr1:9750400-9751000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr1:9750400-9751000	Enhancers	Small Intestine	intestine
43	chr1:9750400-9751000	Flanking Active TSS	HSMMtube	muscle
44	chr1:9750400-9751200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr1:9750400-9751200	Enhancers	Brain Angular Gyrus	brain
46	chr1:9750400-9751400	Enhancers	Thymus	Thymus
47	chr1:9750400-9751400	Genic enhancers	Dnd41	blood
48	chr1:9750400-9751600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:9750400-9751600	Enhancers	Hela-S3	cervix
50	chr1:9750400-9751800	Flanking Active TSS	HSMM	muscle

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