Variant report

Variant	rs231336
Chromosome Location	chr4:2795190-2795191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr4:2794218-2795464	ECC-1	luminal epithelium:	n/a	n/a
2	SMARCB1	chr4:2794940-2796147	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr4:2795172-2797101	IMR90	lung:	n/a	chr4:2796846-2796857
4	EBF1	chr4:2795006-2795294	GM12878	blood:	n/a	n/a
5	ZBTB7A	chr4:2794414-2795651	K562	blood:	n/a	n/a
6	SMARCC1	chr4:2795173-2796619	Hela-S3	cervix:	n/a	n/a
7	ZBTB7A	chr4:2794263-2795708	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr4:2795180-2796858	HL-60	blood:	n/a	n/a
9	STAT1	chr4:2794835-2796475	Hela-S3	cervix:	n/a	chr4:2795392-2795412 chr4:2795392-2795412 chr4:2795390-2795402 chr4:2795397-2795406 chr4:2795396-2795407 chr4:2795398-2795407 chr4:2795398-2795406
10	ZBTB7A	chr4:2794445-2795639	K562	blood:	n/a	n/a
11	YY1	chr4:2795120-2795266	K562	blood:	n/a	n/a
12	MXI1	chr4:2794372-2797373	IMR90	lung:	n/a	n/a
13	RCOR1	chr4:2794917-2797027	IMR90	lung:	n/a	n/a
14	ELF1	chr4:2794937-2795743	GM12878	blood:	n/a	chr4:2795152-2795164

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2795155-2795205	HepG2	liver:	n/a
2	chr4:2795155-2795205	MCF10A-Er-Src	breast:	n/a
3	chr4:2795155-2795205	HCM	heart:	n/a
4	chr4:2795155-2795205	NT2-D1	testis:	n/a
5	chr4:2795155-2795205	CMK	blood:	n/a
6	chr4:2795155-2795205	U87	brain:	n/a
7	chr4:2795155-2795205	HUVEC	blood vessel:	n/a
8	chr4:2795155-2795205	LNCaP	prostate:	n/a
9	chr4:2795155-2795205	H1-hESC	embryonic stem cell:	embryo
10	chr4:2795155-2795205	NHBE	bronchial:	n/a
11	chr4:2795155-2795205	HCT-116	colon:	n/a
12	chr4:2795155-2795205	SK-N-SH_RA	brain:	n/a
13	chr4:2795155-2795205	A549	lung:	n/a
14	chr4:2795155-2795205	SKMC	muscle:	n/a
15	chr4:2795155-2795205	AG04450	lung:	fetal
16	chr4:2795155-2795205	AG09319	gingival:	n/a
17	chr4:2795155-2795205	NH-A	brain:	n/a
18	chr4:2795155-2795205	MCF-7	breast:	n/a
19	chr4:2795155-2795205	PFSK-1	brain:	n/a
20	chr4:2795155-2795205	HNPCEpiC	eye:	n/a
21	chr4:2795155-2795205	T-47D	breast:	n/a
22	chr4:2795155-2795205	RPTEC	kidney:	n/a
23	chr4:2795155-2795205	HIPEpiC	eye:	n/a
24	chr4:2795155-2795205	HPAEpiC	pulmonary alveolar:	n/a
25	chr4:2795155-2795205	GM06990	blood:	n/a
26	chr4:2795155-2795205	K562	blood:	n/a
27	chr4:2795155-2795205	AoSMC	blood vessel:	n/a
28	chr4:2795155-2795205	Hela-S3	cervix:	n/a
29	chr4:2795155-2795205	Caco-2	colon:	n/a
30	chr4:2795155-2795205	HCPEpiC	choroid plexus:	n/a
31	chr4:2795155-2795205	AG09309	skin:	n/a
32	chr4:2795155-2795205	ProgFib	skin:	n/a
33	chr4:2795155-2795205	IMR90	lung:	fetal
34	chr4:2795155-2795205	HEK293	kidney:	embryo
35	chr4:2795155-2795205	ECC-1	luminal epithelium:	n/a
36	chr4:2795155-2795205	BE2_C	brain:	n/a
37	chr4:2795155-2795205	SAEC	small airway:	n/a
38	chr4:2795155-2795205	AG10803	skin:	n/a
39	chr4:2795155-2795205	HRPEpiC	eye:	n/a
40	chr4:2795155-2795205	HCF	heart:	n/a
41	chr4:2795155-2795205	GM12878	blood:	n/a
42	chr4:2795155-2795205	AG04449	skin:	fetal
43	chr4:2795155-2795205	Hepatocyte	liver:	n/a
44	chr4:2795155-2795205	SK-N-SH	brain:	n/a
45	chr4:2795155-2795205	HEEpiC	esophagus:	n/a
46	chr4:2795155-2795205	NHDF-neo	bronchial:	n/a
47	chr4:2795155-2795205	HL-60	blood:	n/a
48	chr4:2795155-2795205	BJ	skin:	n/a
49	chr4:2795155-2795205	PrEC	prostate:	n/a
50	chr4:2795155-2795205	HRE	kidney:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2794178..2796870-chr4:2828744..2832985,4	MCF-7	breast:
2	chr4:2794084..2803742-chr4:2816227..2824357,23	MCF-7	breast:
3	chr17:56708745..56710384-chr4:2792772..2795707,2	MCF-7	breast:
4	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
5	chr4:2747762..2749631-chr4:2792951..2795246,2	MCF-7	breast:
6	chr4:2793408..2795261-chr4:2937928..2940807,2	MCF-7	breast:
7	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:
8	chr4:2793663..2796017-chr4:2810077..2811741,2	MCF-7	breast:
9	chr4:2755902..2759354-chr4:2793552..2797883,6	K562	blood:
10	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:
11	chr4:2757714..2759449-chr4:2793017..2796252,4	K562	blood:
12	chr4:2794820..2799191-chr4:2824314..2827597,4	MCF-7	breast:
13	chr4:2793845..2803067-chr4:2816443..2823671,22	MCF-7	breast:
14	chr4:2747261..2749525-chr4:2793563..2796343,2	K562	blood:

No data

Variant related genes	Relation type
SH3BP2	TF binding region
SH3BP2	CpG island
ENSG00000109736	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1002517	chr4:2747905-2822017	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv967941	chr4:2765555-2802771	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	esv3439511	chr4:2793779-2796327	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	esv3430511	chr4:2794104-2796177	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2790200-2795400	Weak transcription	Fetal Lung	lung
2	chr4:2790600-2795200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:2791400-2795200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:2791600-2795200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:2794200-2795600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:2794200-2795600	Active TSS	Small Intestine	intestine
7	chr4:2794400-2795400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:2794400-2795400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:2794400-2795400	Active TSS	Adipose Nuclei	Adipose
10	chr4:2794400-2795400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:2794400-2795400	Active TSS	Rectal Smooth Muscle	rectum
12	chr4:2794400-2795400	Active TSS	K562	blood
13	chr4:2794400-2795600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:2794400-2795600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:2794400-2795600	Enhancers	Fetal Brain Male	brain
16	chr4:2794400-2795600	Active TSS	Fetal Brain Female	brain
17	chr4:2794400-2795800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr4:2794400-2796000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr4:2794400-2796000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr4:2794600-2795200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:2794600-2795200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:2794600-2795200	Active TSS	Brain Hippocampus Middle	brain
23	chr4:2794600-2795200	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr4:2794600-2795200	Active TSS	Stomach Smooth Muscle	stomach
25	chr4:2794600-2795400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:2794600-2795400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr4:2794600-2795400	Active TSS	Duodenum Mucosa	Duodenum
28	chr4:2794600-2795400	Active TSS	Right Atrium	heart
29	chr4:2794600-2795400	Active TSS	Right Ventricle	heart
30	chr4:2794600-2795400	Active TSS	A549	lung
31	chr4:2794600-2795600	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr4:2794600-2795600	Active TSS	Ovary	ovary
33	chr4:2794600-2795600	Active TSS	HepG2	liver
34	chr4:2794800-2795200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:2794800-2795200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:2794800-2795200	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr4:2794800-2795200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr4:2794800-2795200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:2794800-2795200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:2794800-2795200	Weak transcription	Fetal Heart	heart
41	chr4:2794800-2795200	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr4:2794800-2795200	Flanking Active TSS	Pancreas	Pancrea
43	chr4:2794800-2795200	Flanking Active TSS	Thymus	Thymus
44	chr4:2794800-2795200	Bivalent/Poised TSS	NHEK	skin
45	chr4:2794800-2795400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr4:2794800-2795400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:2794800-2795400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:2794800-2795400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:2794800-2795400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:2794800-2795400	Active TSS	Primary T helper cells PMA-I stimulated	--

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