Variant report

Variant	rs71605701
Chromosome Location	chr4:87928021-87928022
allele	G/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	CREB1	chr4:87927567-87929276	K562	blood:	n/a	n/a
2	MAFK	chr4:87926346-87929776	GM12878	blood:	n/a	chr4:87929083-87929094 chr4:87929086-87929100 chr4:87929083-87929103 chr4:87929082-87929097 chr4:87929085-87929101
3	EP300	chr4:87927804-87928389	GM12878	blood:	n/a	chr4:87928145-87928159 chr4:87927804-87927820
4	CHD2	chr4:87927589-87928650	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:87926580-87929521	PBDE	blood:	n/a	n/a
6	EGR1	chr4:87927746-87928215	K562	blood:	n/a	chr4:87927939-87927949
7	NFIC	chr4:87927706-87928369	HepG2	liver:	n/a	n/a
8	BCL11A	chr4:87927844-87928152	GM12878	blood:	n/a	n/a
9	FOXM1	chr4:87926752-87929162	GM12878	blood:	n/a	n/a
10	YY1	chr4:87927575-87928799	SK-N-SH	brain:	n/a	chr4:87928486-87928500
11	RAD21	chr4:87927108-87929452	IMR90	lung:	n/a	chr4:87927932-87927945 chr4:87927986-87927998
12	KAP1	chr4:87927311-87928203	K562	blood:	n/a	n/a
13	ETS1	chr4:87927761-87928766	GM12878	blood:	n/a	chr4:87928670-87928681 chr4:87928339-87928356 chr4:87928668-87928681 chr4:87928339-87928356 chr4:87928669-87928678
14	PAX5	chr4:87927647-87928685	GM12878	blood:	n/a	n/a
15	FOXP2	chr4:87927836-87928149	PFSK-1	brain:	n/a	n/a
16	TAF1	chr4:87927696-87928837	K562	blood:	n/a	n/a
17	CTCF	chr4:87927629-87928418	IMR90	lung:	n/a	n/a
18	POLR2A	chr4:87927186-87928809	H1-hESC	embryonic stem cell:	n/a	n/a
19	FOXA1	chr4:87927712-87928584	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:87925639-87929947	K562	blood:	n/a	n/a
21	TBP	chr4:87927258-87928482	Hela-S3	cervix:	n/a	n/a
22	MEF2A	chr4:87927495-87928216	GM12878	blood:	n/a	n/a
23	MAX	chr4:87927404-87928759	A549	lung:	n/a	n/a
24	ZBTB7A	chr4:87927846-87928163	HepG2	liver:	n/a	n/a
25	RAD21	chr4:87927531-87929241	GM12878	blood:	n/a	chr4:87927932-87927945 chr4:87927986-87927998
26	POLR2A	chr4:87926818-87929107	GM19099	blood:	n/a	n/a
27	MXI1	chr4:87927580-87928767	K562	blood:	n/a	n/a
28	PAX5	chr4:87927718-87928391	GM12892	blood:	n/a	n/a
29	POLR2A	chr4:87927645-87928733	ECC-1	luminal epithelium:	n/a	n/a
30	EP300	chr4:87927486-87928831	SK-N-SH	brain:	n/a	chr4:87928145-87928159 chr4:87927804-87927820 chr4:87927690-87927704
31	E2F6	chr4:87927600-87928674	K562	blood:	n/a	chr4:87927968-87927983 chr4:87928471-87928478
32	ZKSCAN1	chr4:87927508-87928824	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr4:87927813-87928794	HepG2	liver:	n/a	n/a
34	NFYA	chr4:87927730-87928534	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr4:87927724-87928224	GM12892	blood:	n/a	n/a
36	BHLHE40	chr4:87927218-87929076	K562	blood:	n/a	chr4:87928375-87928391
37	REST	chr4:87927301-87928873	HL-60	blood:	n/a	chr4:87928480-87928493 chr4:87928496-87928509 chr4:87928766-87928786 chr4:87928767-87928785
38	POLR2A	chr4:87926987-87928739	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:87927625-87928912	K562	blood:	n/a	n/a
40	SREBP1	chr4:87926438-87929563	GM12878	blood:	n/a	n/a
41	REST	chr4:87927780-87928186	SK-N-SH	brain:	n/a	n/a
42	JUND	chr4:87927870-87928329	H1-hESC	embryonic stem cell:	n/a	n/a
43	PML	chr4:87927748-87928628	MCF-7	breast:	n/a	n/a
44	SRF	chr4:87927812-87928553	MCF-7	breast:	n/a	chr4:87928050-87928068
45	IRF1	chr4:87927515-87929184	K562	blood:	n/a	chr4:87927688-87927702 chr4:87927681-87927701 chr4:87927694-87927706 chr4:87927695-87927705 chr4:87927692-87927706 chr4:87927693-87927706 chr4:87927695-87927706 chr4:87927694-87927706 chr4:87927687-87927707 chr4:87927691-87927705 chr4:87927982-87927996 chr4:87927695-87927709 chr4:87927686-87927703 chr4:87927696-87927707 chr4:87927693-87927706
46	TAF1	chr4:87927613-87928835	K562	blood:	n/a	n/a
47	CTCF	chr4:87927723-87928048	GM19238	blood:	n/a	n/a
48	ARID3A	chr4:87927594-87928471	HepG2	liver:	n/a	n/a
49	MYC	chr4:87927086-87929178	NB4	blood:	n/a	n/a
50	HEY1	chr4:87927743-87928588	HepG2	liver:	n/a	chr4:87928039-87928054 chr4:87928485-87928500 chr4:87928440-87928455

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:87927975-87928025	CMK	blood:	n/a
2	chr4:87927978-87928028	NT2-D1	testis:	n/a
3	chr4:87927978-87928028	Jurkat	blood:	n/a
4	chr4:87927975-87928025	MCF-7	breast:	n/a
5	chr4:87927975-87928025	HMEC	breast:	n/a
6	chr4:87927978-87928028	SK-N-SH	brain:	n/a
7	chr4:87927978-87928028	AoSMC	blood vessel:	n/a
8	chr4:87927978-87928028	SK-N-MC	brain:	n/a
9	chr4:87927978-87928028	ovcar-3	ovarian:	n/a
10	chr4:87927975-87928025	HAEpiC	amniotic membrane:	n/a
11	chr4:87927975-87928025	Hepatocyte	liver:	n/a
12	chr4:87927975-87928025	AoSMC	blood vessel:	n/a
13	chr4:87927978-87928028	BE2_C	brain:	n/a
14	chr4:87927978-87928028	AG09319	gingival:	n/a
15	chr4:87927978-87928028	SAEC	small airway:	n/a
16	chr4:87927975-87928025	GM12892	blood:	n/a
17	chr4:87927978-87928028	Hela-S3	cervix:	n/a
18	chr4:87927978-87928028	AG10803	skin:	n/a
19	chr4:87927975-87928025	ECC-1	luminal epithelium:	n/a
20	chr4:87927978-87928028	HCPEpiC	choroid plexus:	n/a
21	chr4:87927975-87928025	HNPCEpiC	eye:	n/a
22	chr4:87927978-87928028	HNPCEpiC	eye:	n/a
23	chr4:87927978-87928028	NHDF-neo	bronchial:	n/a
24	chr4:87927975-87928025	NH-A	brain:	n/a
25	chr4:87927975-87928025	SK-N-SH	brain:	n/a
26	chr4:87927975-87928025	AG10803	skin:	n/a
27	chr4:87927978-87928028	H1-hESC	embryonic stem cell:	embryo
28	chr4:87927978-87928028	AG09309	skin:	n/a
29	chr4:87927978-87928028	SK-N-SH_RA	brain:	n/a
30	chr4:87927975-87928025	PANC-1	pancreas:	n/a
31	chr4:87927978-87928028	IMR90	lung:	fetal
32	chr4:87927978-87928028	PANC-1	pancreas:	n/a
33	chr4:87927978-87928028	HRE	kidney:	n/a
34	chr4:87927975-87928025	Hela-S3	cervix:	n/a
35	chr4:87927978-87928028	HCT-116	colon:	n/a
36	chr4:87927975-87928025	GM12891	blood:	n/a
37	chr4:87927975-87928025	GM12878	blood:	n/a
38	chr4:87927978-87928028	SKMC	muscle:	n/a
39	chr4:87927978-87928028	NH-A	brain:	n/a
40	chr4:87927978-87928028	ProgFib	skin:	n/a
41	chr4:87927978-87928028	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:87927975-87928025	HEEpiC	esophagus:	n/a
43	chr4:87927975-87928025	GM06990	blood:	n/a
44	chr4:87927975-87928025	AG04450	lung:	fetal
45	chr4:87927975-87928025	NB4	blood:	n/a
46	chr4:87927975-87928025	LNCaP	prostate:	n/a
47	chr4:87927978-87928028	HepG2	liver:	n/a
48	chr4:87927978-87928028	HRPEpiC	eye:	n/a
49	chr4:87927978-87928028	RPTEC	kidney:	n/a
50	chr4:87927975-87928025	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr4:87925728..87928090-chr4:88141264..88142892,2	MCF-7	breast:
2	chr4:87927492..87928450-chr7:116593509..116594221,2	Hela-S3	cervix:
3	chr4:87851729..87853326-chr4:87926399..87928104,2	MCF-7	breast:
4	chr4:87927619..87928120-chr6:108901137..108901637,2	NB4	blood:
5	chr4:87927007..87928738-chr4:87968800..87971824,3	K562	blood:
6	chr4:87925271..87928107-chr4:88005926..88008504,3	K562	blood:
7	chr4:87926465..87928087-chr4:88020560..88022641,2	K562	blood:
8	chr4:87906409..87908323-chr4:87926209..87928101,2	MCF-7	breast:
9	chr4:87926172..87928696-chr7:150019642..150022141,2	MCF-7	breast:
10	chr4:87927957..87928647-chr7:26240156..26240755,2	NB4	blood:
11	chr3:156392079..156392717-chr4:87927562..87928123,2	MCF-7	breast:
12	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
13	chr4:84376491..84377257-chr4:87927501..87928067,2	NB4	blood:
14	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
15	chr17:74733173..74733801-chr4:87927871..87928865,2	HCT-116	colon:
16	chr4:87926596..87928915-chr4:87970659..87972204,2	MCF-7	breast:
17	chr4:87927772..87928405-chrX:153626454..153627118,2	Hela-S3	cervix:
18	chr4:87926199..87928138-chr4:87938575..87940535,2	MCF-7	breast:
19	chr14:35872357..35874044-chr4:87927211..87929336,2	MCF-7	breast:
20	chr20:49347428..49348256-chr4:87927620..87928601,2	MCF-7	breast:
21	chr3:49202893..49203855-chr4:87927929..87928500,2	Hela-S3	cervix:
22	chr4:87855388..87857616-chr4:87927379..87929131,8	MCF-7	breast:
23	chr4:87925170..87928506-chr4:88140421..88143207,4	MCF-7	breast:
24	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:
25	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:

Variant related genes	Relation type
AFF1	TF binding region
AFF1	CpG island
ENSG00000161547	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000163659	Chromatin interaction
ENSG00000177352	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000163633	Chromatin interaction
ENSG00000163312	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000235043	Chromatin interaction
ENSG00000145332	Chromatin interaction
ENSG00000163319	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13112444	0.84[EUR][1000 genomes]
rs13142380	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34077745	0.95[EUR][1000 genomes]
rs71605702	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87926600-87929400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:87926800-87929400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:87926800-87929400	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr4:87926800-87929800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:87926800-87930000	Active TSS	Psoas Muscle	Psoas
6	chr4:87926800-87930200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:87927000-87929000	Active TSS	Fetal Brain Male	brain
8	chr4:87927000-87929200	Active TSS	HSMM	muscle
9	chr4:87927000-87929600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:87927000-87929600	Active TSS	Aorta	Aorta
11	chr4:87927000-87930200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr4:87927000-87930200	Active TSS	Thymus	Thymus
13	chr4:87927000-87930400	Active TSS	Colonic Mucosa	Colon
14	chr4:87927000-87930400	Active TSS	Right Ventricle	heart
15	chr4:87927200-87928200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr4:87927200-87928800	Active TSS	Primary B cells from peripheral blood	blood
17	chr4:87927200-87929200	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr4:87927200-87929200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr4:87927200-87929200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:87927200-87929200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:87927200-87929200	Active TSS	Brain Cingulate Gyrus	brain
22	chr4:87927200-87929200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr4:87927200-87929200	Active TSS	Fetal Lung	lung
24	chr4:87927200-87929200	Active TSS	Gastric	stomach
25	chr4:87927200-87929200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr4:87927200-87929200	Active TSS	Spleen	Spleen
27	chr4:87927200-87929400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr4:87927200-87929400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:87927200-87929400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:87927200-87929400	Active TSS	Esophagus	oesophagus
31	chr4:87927200-87929400	Active TSS	Fetal Muscle Trunk	muscle
32	chr4:87927200-87929400	Active TSS	Lung	lung
33	chr4:87927200-87929400	Active TSS	Pancreas	Pancrea
34	chr4:87927200-87929600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:87927200-87929600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:87927200-87929600	Active TSS	Fetal Stomach	stomach
37	chr4:87927200-87929800	Active TSS	NHDF-Ad	bronchial
38	chr4:87927200-87930000	Active TSS	Rectal Smooth Muscle	rectum
39	chr4:87927200-87930200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:87927200-87930200	Active TSS	Colon Smooth Muscle	Colon
41	chr4:87927200-87930200	Active TSS	Stomach Smooth Muscle	stomach
42	chr4:87927200-87930400	Active TSS	Ovary	ovary
43	chr4:87927400-87928800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:87927400-87928800	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr4:87927400-87929000	Active TSS	Hela-S3	cervix
46	chr4:87927400-87929000	Bivalent/Poised TSS	HepG2	liver
47	chr4:87927400-87929200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:87927400-87929200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:87927400-87929200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:87927400-87929200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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