Variant report

Variant	rs376939685
Chromosome Location	chr7:6413183-6413184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr7:6412893-6413266	GM12878	blood:	n/a	n/a
2	IKZF1	chr7:6413150-6414147	GM12878	blood:	n/a	n/a
3	PML	chr7:6412717-6413612	GM12878	blood:	n/a	n/a
4	JUND	chr7:6413175-6414271	K562	blood:	n/a	n/a
5	MAX	chr7:6413050-6413423	K562	blood:	n/a	n/a
6	ZBTB7A	chr7:6413180-6413401	K562	blood:	n/a	n/a
7	ATF2	chr7:6413103-6413408	GM12878	blood:	n/a	n/a
8	MAX	chr7:6413087-6414784	HCT-116	colon:	n/a	chr7:6414428-6414438
9	EBF1	chr7:6413022-6413400	GM12878	blood:	n/a	n/a
10	PAX5	chr7:6413102-6413335	GM12878	blood:	n/a	n/a
11	TEAD4	chr7:6413008-6413423	K562	blood:	n/a	n/a
12	GTF3C2	chr7:6412997-6414094	K562	blood:	n/a	n/a
13	FOXM1	chr7:6412980-6413265	GM12878	blood:	n/a	n/a
14	YY1	chr7:6412724-6413545	GM12892	blood:	n/a	n/a
15	TAF1	chr7:6413013-6413413	GM12878	blood:	n/a	n/a
16	EP300	chr7:6413163-6413428	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:6413090-6414805	GM12892	blood:	n/a	n/a
18	SPI1	chr7:6413165-6413339	K562	blood:	n/a	n/a
19	POLR2A	chr7:6413106-6413580	GM12878	blood:	n/a	n/a
20	RCOR1	chr7:6413015-6414186	K562	blood:	n/a	n/a
21	BATF	chr7:6413135-6413413	GM12878	blood:	n/a	n/a
22	HDAC2	chr7:6413024-6413240	K562	blood:	n/a	n/a
23	EGR1	chr7:6413098-6413278	K562	blood:	n/a	n/a
24	POLR2A	chr7:6413175-6413186	K562	blood:	n/a	n/a
25	POLR2A	chr7:6413093-6413473	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:6413116-6413432	GM12878	blood:	n/a	n/a
27	FOXM1	chr7:6412896-6414297	GM12878	blood:	n/a	n/a
28	TCF12	chr7:6413080-6413387	GM12878	blood:	n/a	n/a
29	BATF	chr7:6413079-6413418	GM12878	blood:	n/a	n/a
30	PAX5	chr7:6413117-6413400	GM12878	blood:	n/a	n/a
31	CTCF	chr7:6413080-6413230	GM12872	blood:	n/a	n/a
32	YY1	chr7:6412787-6413484	GM12878	blood:	n/a	n/a
33	SPI1	chr7:6413095-6413396	GM12878	blood:	n/a	n/a
34	SPI1	chr7:6413154-6413334	GM12878	blood:	n/a	n/a
35	SPI1	chr7:6413015-6413665	GM12878	blood:	n/a	n/a
36	SPI1	chr7:6413035-6413442	GM12891	blood:	n/a	n/a
37	PBX3	chr7:6413163-6413277	GM12878	blood:	n/a	n/a
38	JUN	chr7:6412741-6414246	K562	blood:	n/a	n/a
39	SPI1	chr7:6412687-6413461	HL-60	blood:	n/a	n/a
40	ZNF384	chr7:6412657-6414098	K562	blood:	n/a	n/a
41	YY1	chr7:6413150-6413677	K562	blood:	n/a	n/a
42	TCF12	chr7:6413095-6413436	GM12878	blood:	n/a	n/a
43	ELF1	chr7:6412952-6414829	GM12878	blood:	n/a	chr7:6414153-6414164
44	RUNX3	chr7:6412692-6414250	GM12878	blood:	n/a	n/a
45	NFIC	chr7:6413064-6413555	GM12878	blood:	n/a	n/a
46	BCL11A	chr7:6413131-6413452	GM12878	blood:	n/a	n/a
47	RUNX3	chr7:6412736-6413491	GM12878	blood:	n/a	n/a
48	TCF3	chr7:6413061-6413449	GM12878	blood:	n/a	n/a
49	SPI1	chr7:6413018-6413477	GM12891	blood:	n/a	n/a
50	CTCF	chr7:6413180-6413330	GM06990	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6413015..6417903-chr7:6435938..6439469,5	MCF-7	breast:
2	chr7:6412561..6415167-chr8:145131174..145134036,2	MCF-7	breast:
3	chr7:6412517..6417079-chr7:6439604..6446019,8	MCF-7	breast:
4	chr7:6310725..6312409-chr7:6412991..6414709,2	K562	blood:
5	chr7:6412857..6414877-chr7:6485942..6488132,2	MCF-7	breast:
6	chr7:6412666..6416399-chr7:6429961..6432840,4	MCF-7	breast:

No data

Variant related genes	Relation type
RAC1	TF binding region
ENSG00000178896	Chromatin interaction
ENSG00000164535	Chromatin interaction
ENSG00000008256	Chromatin interaction
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv3396417	chr7:6413052-6415600	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6407800-6413600	Weak transcription	HUVEC	blood vessel
2	chr7:6408000-6413400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:6408200-6413200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:6408200-6413400	Weak transcription	Fetal Intestine Large	intestine
5	chr7:6408400-6413200	Weak transcription	Fetal Intestine Small	intestine
6	chr7:6409800-6413600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:6409800-6414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:6412200-6413600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:6412400-6413200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:6412400-6413400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr7:6412400-6413800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:6412600-6413200	Enhancers	Duodenum Mucosa	Duodenum
13	chr7:6412600-6413400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr7:6412600-6413400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr7:6412800-6413200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr7:6412800-6413200	Enhancers	Primary T cells from cord blood	blood
17	chr7:6412800-6413200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:6412800-6413200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:6412800-6413200	Enhancers	Fetal Thymus	thymus
20	chr7:6412800-6413200	Enhancers	Thymus	Thymus
21	chr7:6412800-6413400	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr7:6412800-6413400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:6412800-6414000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr7:6412800-6415000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr7:6412800-6415000	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr7:6412800-6416600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr7:6413000-6413200	Active TSS	Primary B cells from cord blood	blood
28	chr7:6413000-6413200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr7:6413000-6413200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:6413000-6413200	Enhancers	Dnd41	blood
31	chr7:6413000-6413600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:6413000-6413600	Flanking Active TSS	Placenta	Placenta
33	chr7:6413000-6414800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:6413000-6415600	Active TSS	Colonic Mucosa	Colon
35	chr7:6413000-6416400	Active TSS	K562	blood
36	chr7:6413000-6416600	Active TSS	GM12878-XiMat	blood
37	chr7:6413000-6416800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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