Variant report

Variant	rs74134511
Chromosome Location	chr1:197885235-197885236
allele	C/G
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	SUZ12	chr1:197877431-197889818	NT2-D1	testis:	n/a	n/a
2	CTCF	chr1:197885100-197885250	HL-60	blood:	n/a	n/a
3	RAD21	chr1:197884904-197885263	A549	lung:	n/a	n/a
4	ZNF263	chr1:197884061-197887474	HEK293-T-REx	kidney:	n/a	chr1:197887374-197887383 chr1:197884671-197884680 chr1:197885944-197885953
5	YY1	chr1:197884838-197885335	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr1:197885004-197885356	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr1:197884779-197885451	MCF-7	breast:	n/a	chr1:197884909-197884918 chr1:197884911-197884921
8	RAD21	chr1:197884880-197885265	HepG2	liver:	n/a	n/a
9	MAX	chr1:197884938-197885240	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr1:197884902-197885281	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr1:197884899-197885253	H1-hESC	embryonic stem cell:	n/a	chr1:197884909-197884918 chr1:197884911-197884921
12	CTCF	chr1:197884958-197885266	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:197885140-197885290	GM06990	blood:	n/a	n/a
14	RAD21	chr1:197884822-197885324	MCF-7	breast:	n/a	n/a
15	MYC	chr1:197885154-197885275	MCF-7	breast:	n/a	n/a
16	SIN3A	chr1:197885017-197885570	H1-hESC	embryonic stem cell:	n/a	chr1:197885096-197885107
17	POLR2A	chr1:197884970-197885314	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr1:197885050-197885551	Hela-S3	cervix:	n/a	n/a
19	MYC	chr1:197884990-197885276	H1-hESC	embryonic stem cell:	n/a	n/a
20	KAP1	chr1:197884827-197885810	U2OS	brain:	n/a	n/a
21	POLR2A	chr1:197885145-197885263	Gliobla	brain:	n/a	n/a
22	POLR2A	chr1:197885136-197885612	MCF-7	breast:	n/a	n/a
23	HA-E2F1	chr1:197884318-197886407	MCF-7	breast:	n/a	chr1:197885162-197885174 chr1:197885577-197885587
24	KAP1	chr1:197884676-197886575	HEK293	kidney:	n/a	chr1:197885951-197885959
25	TCF7L2	chr1:197884841-197885530	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr1:197884761-197885311	MCF-7	breast:	n/a	n/a
27	YY1	chr1:197884882-197885289	HepG2	liver:	n/a	n/a
28	CTCF	chr1:197884864-197885245	HepG2	liver:	n/a	chr1:197884909-197884918 chr1:197884911-197884921
29	MAX	chr1:197884882-197885744	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr1:197884888-197885385	IMR90	lung:	n/a	chr1:197884909-197884918 chr1:197884911-197884921
31	RAD21	chr1:197884948-197885282	HepG2	liver:	n/a	n/a
32	ZKSCAN1	chr1:197885154-197885451	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr1:197884957-197885351	H1-hESC	embryonic stem cell:	n/a	n/a
34	TCF7L2	chr1:197885021-197885263	MCF-7	breast:	n/a	n/a
35	MAX	chr1:197884545-197885769	NB4	blood:	n/a	chr1:197884571-197884581 chr1:197884572-197884579
36	EGR1	chr1:197884851-197885339	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr1:197884962-197885376	H1-hESC	embryonic stem cell:	n/a	chr1:197885162-197885174
38	MAX	chr1:197885009-197885414	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr1:197884678-197885401	HCT-116	colon:	n/a	n/a
40	RAD21	chr1:197884846-197885270	H1-hESC	embryonic stem cell:	n/a	n/a
41	SMC3	chr1:197884879-197885238	HepG2	liver:	n/a	n/a
42	RAD21	chr1:197884855-197885875	IMR90	lung:	n/a	n/a
43	CTCF	chr1:197885160-197885310	A549	lung:	n/a	n/a
44	CTCF	chr1:197884963-197885277	MCF-7	breast:	n/a	n/a
45	SMC3	chr1:197884826-197885320	Hela-S3	cervix:	n/a	n/a
46	SUZ12	chr1:197877495-197890009	H1-hESC	embryonic stem cell:	n/a	n/a
47	RCOR1	chr1:197885008-197885285	Hela-S3	cervix:	n/a	n/a
48	RFX5	chr1:197884946-197885238	Hela-S3	cervix:	n/a	n/a
49	MAX	chr1:197884907-197885894	ECC-1	luminal epithelium:	n/a	n/a
50	CREB1	chr1:197885001-197885252	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:197884876..197885553-chr16:2826918..2827685,2	Hela-S3	cervix:
2	chr1:197870101..197873220-chr1:197881150..197886265,4	MCF-7	breast:
3	chr1:197868383..197873929-chr1:197879774..197886951,11	K562	blood:

Variant related genes	Relation type
LHX9	TF binding region
ENSG00000203724	Chromatin interaction
ENSG00000103363	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16842138	0.81[AFR][1000 genomes]
rs59509398	0.81[AFR][1000 genomes]
rs74134514	0.81[AFR][1000 genomes]
rs74134515	0.81[AFR][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	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197884400-197885600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:197884400-197885800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
3	chr1:197884400-197887000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr1:197884400-197887400	Active TSS	Hela-S3	cervix
5	chr1:197884600-197885400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr1:197884600-197885400	Bivalent Enhancer	Placenta	Placenta
7	chr1:197884600-197885400	Active TSS	Right Ventricle	heart
8	chr1:197884600-197885600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
9	chr1:197884600-197885600	Bivalent/Poised TSS	A549	lung
10	chr1:197884600-197885800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:197884600-197885800	Bivalent Enhancer	Liver	Liver
12	chr1:197884600-197886600	Bivalent Enhancer	Brain Angular Gyrus	brain
13	chr1:197884600-197887000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr1:197884600-197887000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr1:197884600-197887000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:197884600-197887400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:197884600-197891000	Bivalent Enhancer	Fetal Thymus	thymus
18	chr1:197884800-197885400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr1:197884800-197885400	Bivalent Enhancer	Primary B cells from cord blood	blood
20	chr1:197884800-197885400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:197884800-197885400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
22	chr1:197884800-197885400	Bivalent Enhancer	Fetal Heart	heart
23	chr1:197884800-197885400	Bivalent/Poised TSS	K562	blood
24	chr1:197884800-197885600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:197884800-197885600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
26	chr1:197884800-197885600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
27	chr1:197884800-197885600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:197884800-197885600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:197884800-197885600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:197884800-197885600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
31	chr1:197884800-197885600	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr1:197884800-197885800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr1:197884800-197885800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:197884800-197885800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
35	chr1:197884800-197885800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr1:197884800-197885800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:197884800-197885800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:197884800-197885800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr1:197884800-197886000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
40	chr1:197884800-197886000	Enhancers	Spleen	Spleen
41	chr1:197884800-197886200	Bivalent/Poised TSS	HSMMtube	muscle
42	chr1:197884800-197886200	Flanking Bivalent TSS/Enh	NHEK	skin
43	chr1:197884800-197886400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
44	chr1:197884800-197887000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:197884800-197887000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
46	chr1:197884800-197887000	Enhancers	Lung	lung
47	chr1:197884800-197887000	Enhancers	Pancreas	Pancrea
48	chr1:197884800-197887200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr1:197884800-197887200	Bivalent Enhancer	Fetal Lung	lung
50	chr1:197884800-197887200	Bivalent Enhancer	Stomach Mucosa	stomach

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