Variant report

Variant	rs6703741
Chromosome Location	chr1:161129786-161129787
allele	A/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	POLR2A	chr1:161128767-161130122	PFSK-1	brain:	n/a	n/a
2	NFYB	chr1:161129455-161129889	GM12878	blood:	n/a	chr1:161129639-161129654 chr1:161129639-161129653 chr1:161129639-161129652 chr1:161129639-161129654 chr1:161129636-161129651 chr1:161129641-161129651 chr1:161129641-161129651 chr1:161129638-161129650
3	POLR2A	chr1:161128526-161129811	GM12892	blood:	n/a	n/a
4	MAX	chr1:161128553-161129981	A549	lung:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
5	MAZ	chr1:161128543-161129837	K562	blood:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
6	POLR2A	chr1:161128854-161129916	Raji	blood:	n/a	n/a
7	YY1	chr1:161128765-161129906	H1-hESC	embryonic stem cell:	n/a	chr1:161129194-161129208 chr1:161129303-161129323 chr1:161129309-161129321
8	POLR2A	chr1:161128599-161129918	GM12878	blood:	n/a	n/a
9	MAX	chr1:161128410-161129925	K562	blood:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
10	POLR2A	chr1:161128814-161130166	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:161128826-161129980	H1-neurons	neurons:	n/a	n/a
12	REST	chr1:161128544-161130147	H1-neurons	neurons:	n/a	chr1:161129591-161129604
13	POLR2A	chr1:161128508-161129847	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr1:161128542-161129789	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:161128483-161130088	K562	blood:	n/a	n/a
16	YY1	chr1:161128811-161129900	ECC-1	luminal epithelium:	n/a	chr1:161129194-161129208 chr1:161129303-161129323 chr1:161129309-161129321
17	POLR2A	chr1:161128764-161129795	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:161128626-161129829	PBDE	blood:	n/a	n/a
19	POLR2A	chr1:161128591-161129888	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr1:161128854-161129798	SK-N-SH_RA	brain:	n/a	chr1:161129194-161129208 chr1:161129303-161129323 chr1:161129309-161129321
21	YY1	chr1:161128742-161129943	K562	blood:	n/a	chr1:161129194-161129208 chr1:161129303-161129323 chr1:161129309-161129321
22	YY1	chr1:161128697-161129957	H1-hESC	embryonic stem cell:	n/a	chr1:161129194-161129208 chr1:161129303-161129323 chr1:161129309-161129321
23	NFYB	chr1:161129165-161129889	K562	blood:	n/a	chr1:161129639-161129654 chr1:161129639-161129653 chr1:161129639-161129652 chr1:161129639-161129654 chr1:161129636-161129651 chr1:161129641-161129651 chr1:161129641-161129651 chr1:161129638-161129650
24	POLR2A	chr1:161128624-161130284	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:161128619-161129877	H1-hESC	embryonic stem cell:	n/a	n/a
26	RCOR1	chr1:161128518-161129830	K562	blood:	n/a	n/a
27	POLR2A	chr1:161128525-161129891	K562	blood:	n/a	n/a
28	YY1	chr1:161128619-161129916	SK-N-SH	brain:	n/a	chr1:161129194-161129208 chr1:161129303-161129323 chr1:161129309-161129321
29	POLR2A	chr1:161128573-161130479	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr1:161128536-161129996	HL-60	blood:	n/a	n/a
31	TAF1	chr1:161128854-161129858	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr1:161128554-161130062	GM12892	blood:	n/a	n/a
33	WRNIP1	chr1:161129633-161129833	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:161128701-161130357	HepG2	liver:	n/a	n/a
35	YY1	chr1:161128963-161129848	K562	blood:	n/a	chr1:161129194-161129208 chr1:161129303-161129323 chr1:161129309-161129321
36	POLR2A	chr1:161128604-161129807	MCF-7	breast:	n/a	n/a
37	YY1	chr1:161128914-161129788	HepG2	liver:	n/a	chr1:161129194-161129208 chr1:161129303-161129323 chr1:161129309-161129321
38	POLR2A	chr1:161128568-161130055	K562	blood:	n/a	n/a
39	MAZ	chr1:161128742-161130037	IMR90	lung:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
40	SIN3AK20	chr1:161129099-161129890	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr1:161128836-161129872	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:161128379-161130298	K562	blood:	n/a	n/a
43	HCFC1	chr1:161128410-161130377	Hela-S3	cervix:	n/a	n/a
44	REST	chr1:161128627-161130041	A549	lung:	n/a	chr1:161129591-161129604
45	NFATC1	chr1:161128806-161129864	GM12878	blood:	n/a	n/a
46	YY1	chr1:161128798-161129868	GM12878	blood:	n/a	chr1:161129194-161129208 chr1:161129303-161129323 chr1:161129309-161129321
47	POLR2A	chr1:161128544-161130028	GM12892	blood:	n/a	n/a
48	POLR2A	chr1:161128335-161130429	K562	blood:	n/a	n/a
49	MAX	chr1:161128850-161129814	ECC-1	luminal epithelium:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
50	ELF1	chr1:161128884-161129861	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161129745-161129795	NH-A	brain:	n/a
2	chr1:161129745-161129795	GM06990	blood:	n/a
3	chr1:161129745-161129795	GM12878	blood:	n/a
4	chr1:161129745-161129795	PANC-1	pancreas:	n/a
5	chr1:161129745-161129795	HCM	heart:	n/a
6	chr1:161129745-161129795	T-47D	breast:	n/a
7	chr1:161129745-161129795	U87	brain:	n/a
8	chr1:161129745-161129795	HEEpiC	esophagus:	n/a
9	chr1:161129745-161129795	SK-N-SH_RA	brain:	n/a
10	chr1:161129745-161129795	BE2_C	brain:	n/a
11	chr1:161129745-161129795	AG04449	skin:	fetal
12	chr1:161129745-161129795	ECC-1	luminal epithelium:	n/a
13	chr1:161129745-161129795	HRE	kidney:	n/a
14	chr1:161129745-161129795	SKMC	muscle:	n/a
15	chr1:161129745-161129795	Caco-2	colon:	n/a
16	chr1:161129745-161129795	GM12891	blood:	n/a
17	chr1:161129745-161129795	NHBE	bronchial:	n/a
18	chr1:161129745-161129795	PrEC	prostate:	n/a
19	chr1:161129745-161129795	ProgFib	skin:	n/a
20	chr1:161129745-161129795	NHDF-neo	bronchial:	n/a
21	chr1:161129745-161129795	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:161129745-161129795	HCT-116	colon:	n/a
23	chr1:161129745-161129795	MCF10A-Er-Src	breast:	n/a
24	chr1:161129745-161129795	GM19239	blood:	n/a
25	chr1:161129745-161129795	AG04450	lung:	fetal
26	chr1:161129745-161129795	Hela-S3	cervix:	n/a
27	chr1:161129745-161129795	IMR90	lung:	fetal
28	chr1:161129745-161129795	MCF-7	breast:	n/a
29	chr1:161129745-161129795	SAEC	small airway:	n/a
30	chr1:161129745-161129795	SK-N-SH	brain:	n/a
31	chr1:161129745-161129795	HIPEpiC	eye:	n/a
32	chr1:161129745-161129795	RPTEC	kidney:	n/a
33	chr1:161129745-161129795	K562	blood:	n/a
34	chr1:161129745-161129795	SK-N-MC	brain:	n/a
35	chr1:161129745-161129795	PFSK-1	brain:	n/a
36	chr1:161129745-161129795	H1-hESC	embryonic stem cell:	embryo
37	chr1:161129745-161129795	BJ	skin:	n/a
38	chr1:161129745-161129795	AG10803	skin:	n/a
39	chr1:161129745-161129795	HNPCEpiC	eye:	n/a
40	chr1:161129745-161129795	HAEpiC	amniotic membrane:	n/a
41	chr1:161129745-161129795	AoSMC	blood vessel:	n/a
42	chr1:161129745-161129795	AG09309	skin:	n/a
43	chr1:161129745-161129795	HCPEpiC	choroid plexus:	n/a
44	chr1:161129745-161129795	GM12892	blood:	n/a
45	chr1:161129745-161129795	LNCaP	prostate:	n/a
46	chr1:161129745-161129795	HepG2	liver:	n/a
47	chr1:161129745-161129795	NT2-D1	testis:	n/a
48	chr1:161129745-161129795	HUVEC	blood vessel:	n/a
49	chr1:161129745-161129795	NB4	blood:	n/a
50	chr1:161129745-161129795	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161100691..161104235-chr1:161128857..161130819,4	K562	blood:
2	chr1:161067905..161072134-chr1:161127935..161131211,3	MCF-7	breast:
3	chr1:160231832..160233674-chr1:161127837..161130606,2	MCF-7	breast:
4	chr1:160989787..160992592-chr1:161127591..161130267,2	K562	blood:
5	chr1:161101050..161105947-chr1:161126092..161130683,11	K562	blood:
6	chr1:161128751..161130724-chr1:161170850..161173844,2	MCF-7	breast:
7	chr1:161127959..161129889-chr1:161169079..161171967,3	K562	blood:
8	chr1:161129146..161131988-chr1:161170465..161172275,2	MCF-7	breast:
9	chr1:161085978..161089990-chr1:161127865..161134037,11	K562	blood:
10	chr1:161052998..161054950-chr1:161128036..161130636,2	MCF-7	breast:
11	chr1:160989693..160991522-chr1:161127596..161130418,2	MCF-7	breast:
12	chr1:161101282..161104235-chr1:161127986..161130833,4	MCF-7	breast:
13	chr1:161085658..161090812-chr1:161125926..161133105,17	K562	blood:
14	chr1:161128018..161129911-chr1:161170467..161173789,3	K562	blood:

Variant related genes	Relation type
USP21	TF binding region
ENSG00000224985	TF binding region
ENSG00000224985	CpG island
USP21	CpG island
ENSG00000158793	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000228917	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000132716	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10158361	1.00[MEX][hapmap]
rs12070248	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3489555	chr1:161129735-161131477	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
3	esv3489556	chr1:161129735-161131477	Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161128600-161129800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:161128600-161129800	Active TSS	Fetal Brain Female	brain
3	chr1:161128600-161130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:161128600-161130000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr1:161128600-161130000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:161128600-161130200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:161128600-161130800	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr1:161128800-161129800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:161128800-161129800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
10	chr1:161128800-161129800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:161128800-161129800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:161128800-161130000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:161128800-161130000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:161128800-161130000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:161128800-161130000	Active TSS	Psoas Muscle	Psoas
16	chr1:161128800-161130200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:161129000-161129800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:161129000-161129800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:161129000-161129800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:161129000-161129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:161129000-161129800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:161129000-161129800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:161129000-161129800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:161129000-161129800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:161129000-161129800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:161129000-161129800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:161129000-161129800	Active TSS	Aorta	Aorta
28	chr1:161129000-161129800	Active TSS	Brain Anterior Caudate	brain
29	chr1:161129000-161129800	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:161129000-161129800	Active TSS	Brain Germinal Matrix	brain
31	chr1:161129000-161129800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:161129000-161129800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:161129000-161129800	Active TSS	Brain Substantia Nigra	brain
34	chr1:161129000-161129800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:161129000-161129800	Active TSS	Esophagus	oesophagus
36	chr1:161129000-161129800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr1:161129000-161129800	Active TSS	Fetal Heart	heart
38	chr1:161129000-161129800	Active TSS	Fetal Intestine Large	intestine
39	chr1:161129000-161129800	Active TSS	Fetal Lung	lung
40	chr1:161129000-161129800	Active TSS	Fetal Muscle Leg	muscle
41	chr1:161129000-161129800	Active TSS	Fetal Stomach	stomach
42	chr1:161129000-161129800	Active TSS	Gastric	stomach
43	chr1:161129000-161129800	Active TSS	Lung	lung
44	chr1:161129000-161129800	Active TSS	Ovary	ovary
45	chr1:161129000-161129800	Active TSS	Pancreas	Pancrea
46	chr1:161129000-161129800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:161129000-161129800	Active TSS	Rectal Smooth Muscle	rectum
48	chr1:161129000-161129800	Active TSS	Right Ventricle	heart
49	chr1:161129000-161129800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr1:161129000-161129800	Active TSS	Spleen	Spleen

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