Variant report

Variant	rs193172912
Chromosome Location	chr7:99615085-99615086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99611884..99615327-chr7:99716112..99720187,5	K562	blood:
2	chr7:99612024..99615373-chr7:99646672..99650813,5	MCF-7	breast:
3	chr7:99614250..99615860-chr7:99701481..99703800,2	K562	blood:
4	chr7:99612131..99615242-chr7:99723277..99726662,3	K562	blood:
5	chr7:99528952..99531320-chr7:99615014..99616984,2	K562	blood:
6	chr7:99588651..99591308-chr7:99612703..99615208,2	K562	blood:
7	chr7:99613754..99615518-chr7:99715679..99717343,2	K562	blood:
8	chr7:99613224..99616757-chr7:99646903..99650456,6	K562	blood:
9	chr7:99611430..99615857-chr7:99675156..99681193,15	K562	blood:
10	chr7:99612390..99616211-chr7:99697108..99699457,4	K562	blood:
11	chr7:99612390..99617445-chr7:99697108..99699685,5	K562	blood:
12	chr7:99612275..99615910-chr7:99677885..99681193,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166997	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000106290	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000166529	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000235713	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	esv1828362	chr7:99530233-99628773	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv1830255	chr7:99544908-99626331	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	esv1832985	chr7:99546856-99615911	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv1825207	chr7:99552275-99625510	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv1829545	chr7:99553071-99626386	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	esv1825655	chr7:99554378-99626186	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	esv1828702	chr7:99554757-99624145	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS 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	35 gene(s)	inside rSNPs	diseases
11	esv1831603	chr7:99554769-99624157	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	esv1830357	chr7:99562984-99617852	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	esv1826636	chr7:99563961-99618606	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv433391	chr7:99563961-99618606	Flanking Active TSS Enhancers Weak transcription 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	35 gene(s)	inside rSNPs	diseases
15	esv1831741	chr7:99563961-99626295	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv1826723	chr7:99564091-99616038	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	esv1826228	chr7:99564091-99625688	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
18	esv1830115	chr7:99564091-99625688	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
19	esv19900	chr7:99564133-99625411	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	esv1827919	chr7:99564276-99615911	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
21	esv1833207	chr7:99564276-99628466	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
22	esv1827474	chr7:99564291-99626186	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
23	esv32694	chr7:99565608-99629919	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
24	esv1831013	chr7:99566252-99621841	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
25	esv1828033	chr7:99566252-99634770	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
26	esv1830934	chr7:99566264-99624157	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
27	esv1828426	chr7:99566264-99626343	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
28	esv1827496	chr7:99566264-99634782	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
29	esv1826730	chr7:99567455-99626295	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
30	esv1833435	chr7:99567455-99626295	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
31	esv1829558	chr7:99569394-99626331	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
32	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
33	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers 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 miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
34	esv1828823	chr7:99583219-99618606	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
35	esv1829649	chr7:99583219-99618606	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
36	esv1826763	chr7:99583219-99626295	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
37	esv1824630	chr7:99614770-99639445	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	12 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	chr7:99612800-99615200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:99613000-99615200	Active TSS	HSMMtube	muscle
3	chr7:99613000-99616600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:99613800-99615200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:99613800-99615600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr7:99614000-99615200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:99614000-99615600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:99614000-99615600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:99614000-99616400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:99614200-99615200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:99614200-99615200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr7:99614200-99615200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:99614200-99615400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:99614200-99615400	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr7:99614200-99615600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:99614200-99620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:99614200-99621200	Weak transcription	Aorta	Aorta
18	chr7:99614200-99639000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:99614400-99615200	Enhancers	Placenta	Placenta
20	chr7:99614400-99615400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:99614400-99615600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr7:99614400-99615600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:99614400-99616000	Flanking Active TSS	Liver	Liver
24	chr7:99614400-99616200	Weak transcription	Gastric	stomach
25	chr7:99614400-99616200	Weak transcription	Spleen	Spleen
26	chr7:99614400-99616400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr7:99614400-99616400	Weak transcription	Esophagus	oesophagus
28	chr7:99614400-99616400	Weak transcription	Ovary	ovary
29	chr7:99614400-99616600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:99614400-99619400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:99614400-99620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:99614400-99620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:99614400-99620800	Weak transcription	Left Ventricle	heart
34	chr7:99614400-99628400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:99614600-99615200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:99614600-99615200	Enhancers	Primary B cells from cord blood	blood
37	chr7:99614600-99615200	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:99614600-99615200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr7:99614600-99615200	Enhancers	Fetal Muscle Trunk	muscle
40	chr7:99614600-99615200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:99614600-99615200	Active TSS	HepG2	liver
42	chr7:99614600-99615400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:99614600-99615400	Enhancers	Primary T cells from cord blood	blood
44	chr7:99614600-99615400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:99614600-99615400	Enhancers	Fetal Brain Male	brain
46	chr7:99614600-99615400	Enhancers	Fetal Heart	heart
47	chr7:99614600-99615400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:99614600-99615400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr7:99614600-99615600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:99614600-99615600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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