Variant report

Variant	rs140956916
Chromosome Location	chr6:56508221-56508222
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	chr6:56498488-56508802	MCF10A-Er-Src	breast:	n/a	n/a
2	NFIC	chr6:56507606-56508716	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr6:56507480-56508259	A549	lung:	n/a	chr6:56507810-56507818
4	TCF12	chr6:56507300-56508222	A549	lung:	n/a	n/a
5	JUND	chr6:56507222-56508600	SK-N-SH	brain:	n/a	n/a
6	FOS	chr6:56507564-56508497	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF12	chr6:56507442-56508885	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr6:56507607-56508236	SK-N-SH	brain:	n/a	n/a
9	STAT3	chr6:56507547-56508307	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr6:56507406-56508430	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr6:56507693-56508363	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:56507605-56508415	MCF10A-Er-Src	breast:	n/a	n/a
13	JUND	chr6:56507532-56508337	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr6:56499956-56508359	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr6:56507512-56508246	SK-N-SH	brain:	n/a	chr6:56507810-56507818
16	TCF12	chr6:56507572-56508294	SK-N-SH	brain:	n/a	n/a
17	CEBPB	chr6:56507676-56508405	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56506621..56508645-chr6:56839158..56841779,2	MCF-7	breast:

Variant related genes	Relation type
DST	TF binding region
ENSG00000219790	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv432888	chr6:56507489-56560764	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
2	chr6:56432800-56513600	Weak transcription	Small Intestine	intestine
3	chr6:56441000-56524800	Weak transcription	Colonic Mucosa	Colon
4	chr6:56451800-56514200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:56452200-56514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:56459000-56521000	Weak transcription	Spleen	Spleen
7	chr6:56460600-56513600	Weak transcription	Stomach Mucosa	stomach
8	chr6:56478400-56514600	Weak transcription	Lung	lung
9	chr6:56480600-56514600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:56480800-56536400	Weak transcription	Gastric	stomach
11	chr6:56482000-56518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:56483400-56512600	Weak transcription	Psoas Muscle	Psoas
13	chr6:56485000-56514400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:56485800-56512400	Weak transcription	Fetal Stomach	stomach
15	chr6:56490000-56513600	Strong transcription	Fetal Intestine Large	intestine
16	chr6:56491600-56536600	Weak transcription	Fetal Brain Female	brain
17	chr6:56496600-56517000	Weak transcription	Fetal Brain Male	brain
18	chr6:56496800-56515000	Weak transcription	Fetal Kidney	kidney
19	chr6:56497800-56524800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:56499400-56510000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:56499400-56511800	Weak transcription	Ovary	ovary
22	chr6:56499400-56516800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:56499600-56509200	Weak transcription	Right Ventricle	heart
24	chr6:56499600-56509400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:56500200-56509400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:56500600-56509400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:56500600-56509400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:56500600-56509800	Weak transcription	Brain Germinal Matrix	brain
29	chr6:56500600-56514200	Weak transcription	Fetal Heart	heart
30	chr6:56500800-56513000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr6:56501800-56524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:56502000-56512400	Weak transcription	Fetal Intestine Small	intestine
33	chr6:56504000-56508400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:56505200-56509600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:56505400-56509600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:56505400-56509600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:56505400-56510000	Weak transcription	Placenta	Placenta
38	chr6:56505400-56514600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:56505600-56510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:56505600-56510000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:56505600-56511800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:56505600-56522000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr6:56505600-56537400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:56505800-56509400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:56505800-56510000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:56506000-56516000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:56506600-56508400	Enhancers	HepG2	liver
48	chr6:56506800-56509200	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr6:56506800-56509400	Genic enhancers	HSMM	muscle
50	chr6:56507000-56508800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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