Variant report

Variant	rs575108036
Chromosome Location	chr4:77996143-77996144
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	POLR2A	chr4:77996102-77998071	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr4:77995775-77998045	GM12878	blood:	n/a	n/a
3	EBF1	chr4:77996082-77996423	GM12878	blood:	n/a	chr4:77996232-77996241
4	POLR2A	chr4:77996124-77998044	H1-neurons	neurons:	n/a	n/a
5	MAZ	chr4:77996130-77998048	IMR90	lung:	n/a	chr4:77996254-77996264 chr4:77996878-77996888 chr4:77996958-77996968
6	POLR2A	chr4:77996108-77997996	K562	blood:	n/a	n/a
7	POLR2A	chr4:77996134-77997887	GM18526	blood:	n/a	n/a
8	ZBTB7A	chr4:77996115-77997028	K562	blood:	n/a	n/a
9	POLR2A	chr4:77996126-77997939	K562	blood:	n/a	n/a
10	HEY1	chr4:77996123-77997831	K562	blood:	n/a	chr4:77997445-77997454 chr4:77996895-77996910 chr4:77997447-77997456 chr4:77996546-77996561 chr4:77996941-77996956 chr4:77996831-77996846 chr4:77996538-77996553
11	POLR2A	chr4:77995220-77997931	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:77996085-77997991	GM12892	blood:	n/a	n/a
13	POLR2A	chr4:77996113-77996568	GM12891	blood:	n/a	n/a
14	POLR2A	chr4:77996131-77997965	HUVEC	blood vessel:	n/a	n/a
15	SIN3AK20	chr4:77996114-77996415	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr4:77996138-77997998	U87	brain:	n/a	n/a
17	WRNIP1	chr4:77995450-77996552	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:77995313-77998511	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:77996136-77997850	K562	blood:	n/a	n/a
20	REST	chr4:77995249-77998833	H1-neurons	neurons:	n/a	chr4:77998477-77998487 chr4:77996948-77996961
21	POLR2A	chr4:77994126-77998765	GM12891	blood:	n/a	n/a
22	POLR2A	chr4:77996088-77996564	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:77996083-77996913	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr4:77996052-77997771	K562	blood:	n/a	n/a
25	STAT5A	chr4:77996021-77997967	GM12878	blood:	n/a	chr4:77996954-77996966 chr4:77996256-77996268 chr4:77996948-77996960 chr4:77997066-77997078
26	SIN3AK20	chr4:77996092-77996824	K562	blood:	n/a	n/a
27	POLR2A	chr4:77993590-77997903	K562	blood:	n/a	n/a
28	EGR1	chr4:77995928-77996884	K562	blood:	n/a	chr4:77996532-77996541 chr4:77996635-77996649 chr4:77996529-77996542 chr4:77996598-77996612
29	POLR2A	chr4:77996128-77997783	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr4:77993671-77998503	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:77996142-77996444	GM12891	blood:	n/a	n/a
32	POLR2A	chr4:77994138-77998053	IMR90	lung:	n/a	n/a
33	POLR2A	chr4:77996100-77997931	GM12878	blood:	n/a	n/a
34	SIN3A	chr4:77995887-77997811	H1-hESC	embryonic stem cell:	n/a	chr4:77996982-77996995 chr4:77997530-77997541
35	POLR2A	chr4:77996121-77997972	GM12892	blood:	n/a	n/a
36	CTCF	chr4:77996000-77996150	BE2_C	brain:	n/a	n/a
37	POLR2A	chr4:77995330-77997859	K562	blood:	n/a	n/a
38	POLR2A	chr4:77995500-77997995	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:77996104-77997965	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr4:77993635-77998531	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr4:77996140-77996330	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:77996109-77996548	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:77996111-77997901	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr4:77996095-77998031	SK-N-MC	brain:	n/a	n/a
45	EBF1	chr4:77996117-77996313	GM12878	blood:	n/a	chr4:77996232-77996241
46	EGR1	chr4:77996113-77996878	K562	blood:	n/a	chr4:77996532-77996541 chr4:77996635-77996649 chr4:77996529-77996542 chr4:77996598-77996612
47	MAX	chr4:77996124-77997816	K562	blood:	n/a	chr4:77996254-77996264 chr4:77996878-77996888 chr4:77996958-77996968
48	POLR2A	chr4:77995789-77997897	HL-60	blood:	n/a	n/a
49	POLR2A	chr4:77996070-77998852	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr4:77994233-77998723	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77869773..77871632-chr4:77995514..77998178,4	K562	blood:
2	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
3	chr4:77975545..77980821-chr4:77994993..77998408,5	MCF-7	breast:
4	chr4:77973346..77979214-chr4:77995835..77998143,7	K562	blood:
5	chr4:77994543..78000148-chr4:78076403..78082799,9	K562	blood:
6	chr4:77995405..77999334-chr4:78000731..78006327,9	MCF-7	breast:
7	chr1:211555944..211556496-chr4:77996087..77996921,2	HCT-116	colon:
8	chr4:77869773..77872075-chr4:77995627..77998726,3	K562	blood:
9	chr4:77994285..77999121-chr4:78003590..78007383,5	K562	blood:
10	chr4:77994107..77999899-chr4:78076204..78082875,32	MCF-7	breast:
11	chr4:77870359..77873653-chr4:77995177..77998877,4	MCF-7	breast:
12	chr4:77995650..77999094-chr4:78076501..78080726,6	K562	blood:
13	chr4:77995679..77998060-chr4:78068555..78071849,3	K562	blood:
14	chr4:77979701..77986849-chr4:77990863..77998763,10	MCF-7	breast:
15	chr4:77722957..77725210-chr4:77994122..77996396,2	K562	blood:
16	chr4:77996001..77999161-chr4:78070349..78073053,3	K562	blood:
17	chr4:77977102..77979783-chr4:77995512..77998143,3	K562	blood:

Variant related genes	Relation type
CCNI	TF binding region
ENSG00000138758	Chromatin interaction
ENSG00000138764	Chromatin interaction
ENSG00000214062	Chromatin interaction
ENSG00000201641	Chromatin interaction
ENSG00000153363	Chromatin interaction
ENSG00000118816	Chromatin interaction
ENSG00000224218	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv879499	chr4:77990904-78003416	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3330627	chr4:77995278-77997926	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3357193	chr4:77995453-77998301	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr4:77992000-77996200	Weak transcription	Spleen	Spleen
2	chr4:77992000-77998200	Active TSS	GM12878-XiMat	blood
3	chr4:77993600-77996200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:77993600-77998200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr4:77993600-77998400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:77993800-77998600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:77994000-77997800	Active TSS	Ovary	ovary
8	chr4:77994000-77998000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:77994000-77998400	Active TSS	Aorta	Aorta
10	chr4:77994000-77998600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr4:77994200-77996600	Active TSS	Right Atrium	heart
12	chr4:77994200-77998000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:77994200-77998000	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr4:77994200-77998000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:77994200-77998200	Active TSS	HSMMtube	muscle
16	chr4:77994200-77998200	Active TSS	NHDF-Ad	bronchial
17	chr4:77994400-77998000	Active TSS	Left Ventricle	heart
18	chr4:77994400-77998000	Active TSS	Right Ventricle	heart
19	chr4:77994400-77998200	Active TSS	Fetal Muscle Trunk	muscle
20	chr4:77994400-77998800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:77994400-77998800	Active TSS	Rectal Smooth Muscle	rectum
22	chr4:77994600-77998200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr4:77994600-77998200	Active TSS	Primary T cells fromperipheralblood	blood
24	chr4:77994600-77998400	Active TSS	Brain Germinal Matrix	brain
25	chr4:77994600-77998600	Active TSS	Stomach Smooth Muscle	stomach
26	chr4:77994600-77998800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr4:77994800-77997800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:77994800-77997800	Active TSS	NHEK	skin
29	chr4:77994800-77998000	Active TSS	Colonic Mucosa	Colon
30	chr4:77994800-77998000	Active TSS	Esophagus	oesophagus
31	chr4:77994800-77998000	Active TSS	Fetal Intestine Small	intestine
32	chr4:77994800-77998200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:77994800-77998200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:77995000-77996600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:77995000-77997800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:77995000-77997800	Active TSS	HMEC	breast
37	chr4:77995000-77998000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:77995000-77998000	Active TSS	Brain Substantia Nigra	brain
39	chr4:77995000-77998200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:77995000-77998200	Active TSS	Fetal Brain Male	brain
41	chr4:77995000-77998200	Active TSS	Fetal Brain Female	brain
42	chr4:77995000-77998200	Active TSS	Fetal Thymus	thymus
43	chr4:77995000-77998200	Active TSS	K562	blood
44	chr4:77995000-77998400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:77995000-77998400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr4:77995000-77998400	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr4:77995000-77998400	Active TSS	HSMM	muscle
48	chr4:77995000-77998400	Active TSS	NHLF	lung
49	chr4:77995000-77998600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr4:77995200-77997800	Active TSS	Muscle Satellite Cultured Cells	--

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