Variant report

Variant	rs4612295
Chromosome Location	chr7:56441084-56441085
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1016771	chr7:56174828-56643856	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv538862	chr7:56174828-56643856	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv3368661	chr7:56201127-56591279	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1033163	chr7:56307057-56677865	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv538863	chr7:56307057-56677865	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv888065	chr7:56319050-56580547	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv427783	chr7:56334626-56983646	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv1022563	chr7:56383876-57318888	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
14	esv20779	chr7:56419329-56445602	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	nsv970484	chr7:56423910-56479115	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv12623	chr7:56430567-56442841	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
17	esv1825908	chr7:56430775-56442787	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
18	esv1832491	chr7:56430775-56442787	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
19	esv1825463	chr7:56434057-56442439	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
20	esv1826293	chr7:56434057-56442439	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
21	esv3477246	chr7:56434534-56441270	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
22	esv3477247	chr7:56434534-56441270	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
23	esv19896	chr7:56434646-56443087	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
24	esv992296	chr7:56434811-56442942	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
25	esv1814869	chr7:56435573-56444510	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
26	esv3448449	chr7:56435658-56443856	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
27	esv3451067	chr7:56435658-56443956	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
28	esv3345417	chr7:56436358-56443856	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
29	esv3360735	chr7:56436358-56443856	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
30	esv3374306	chr7:56436358-56443856	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
31	esv3381297	chr7:56436358-56443856	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
32	esv1826541	chr7:56436896-56442439	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
33	esv3478411	chr7:56439537-56442179	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
34	esv3478412	chr7:56439572-56441947	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
35	esv3327581	chr7:56439590-56441183	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
36	nsv966930	chr7:56440900-56461705	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56439800-56442800	Weak transcription	Right Atrium	heart
2	chr7:56441000-56441200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:56441000-56441200	ZNF genes & repeats	Fetal Muscle Leg	muscle
4	chr7:56441000-56441200	Flanking Bivalent TSS/Enh	Placenta	Placenta
5	chr7:56441000-56441400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr7:56441000-56441400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:56441000-56441400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:56441000-56441400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr7:56441000-56441400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr7:56441000-56441400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr7:56441000-56441400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr7:56441000-56441400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:56441000-56441400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:56441000-56441400	Active TSS	Primary T cells from cord blood	blood
15	chr7:56441000-56441400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:56441000-56441400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
17	chr7:56441000-56441400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:56441000-56441400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:56441000-56441400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr7:56441000-56441400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:56441000-56441400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:56441000-56441400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:56441000-56441400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:56441000-56441400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:56441000-56441400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:56441000-56441400	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr7:56441000-56441400	ZNF genes & repeats	Aorta	Aorta
28	chr7:56441000-56441400	ZNF genes & repeats	Liver	Liver
29	chr7:56441000-56441400	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr7:56441000-56441400	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr7:56441000-56441400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr7:56441000-56441400	ZNF genes & repeats	Colonic Mucosa	Colon
33	chr7:56441000-56441400	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr7:56441000-56441400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr7:56441000-56441400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr7:56441000-56441400	ZNF genes & repeats	Fetal Brain Female	brain
37	chr7:56441000-56441400	ZNF genes & repeats	Fetal Stomach	stomach
38	chr7:56441000-56441400	ZNF genes & repeats	Gastric	stomach
39	chr7:56441000-56441400	ZNF genes & repeats	Left Ventricle	heart
40	chr7:56441000-56441400	ZNF genes & repeats	Lung	lung
41	chr7:56441000-56441400	ZNF genes & repeats	Ovary	ovary
42	chr7:56441000-56441400	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr7:56441000-56441400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
44	chr7:56441000-56441400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
45	chr7:56441000-56441400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
46	chr7:56441000-56441400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr7:56441000-56441400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr7:56441000-56441400	ZNF genes & repeats	Small Intestine	intestine
49	chr7:56441000-56441400	ZNF genes & repeats	Thymus	Thymus
50	chr7:56441000-56441400	ZNF genes & repeats	Spleen	Spleen

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