Variant report

Variant	rs6757785
Chromosome Location	chr2:173296164-173296165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:173295909-173296453	HepG2	liver:	n/a	n/a
2	FOXA2	chr2:173296039-173296462	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:173296013-173296343	HepG2	liver:	n/a	n/a
4	FOXA1	chr2:173296067-173296398	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:173296037-173296270	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA1	chr2:173295935-173296449	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173291261..173294444-chr2:173294873..173298615,3	K562	blood:
2	chr2:173272055..173273820-chr2:173294658..173297401,2	MCF-7	breast:
3	chr2:173294248..173297165-chr2:173302746..173304421,2	MCF-7	breast:
4	chr2:173290254..173291940-chr2:173293674..173296240,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLX2-9	chr2:173296163-173300407	ucscGeneNc_uc002uht_1

No data

Variant related genes	Relation type
ENSG00000226963	TF binding region
ENSG00000226963	Chromatin interaction
ENSG00000091409	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173292000-173296600	Active TSS	Right Atrium	heart
2	chr2:173292200-173296200	Active TSS	Right Ventricle	heart
3	chr2:173293400-173297800	Transcr. at gene 5' and 3'	NHEK	skin
4	chr2:173294000-173297600	Weak transcription	Spleen	Spleen
5	chr2:173294000-173301800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:173294200-173302600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:173294400-173296400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr2:173294400-173296600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr2:173294400-173298000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:173294400-173299200	Weak transcription	Placenta	Placenta
11	chr2:173294400-173301400	Weak transcription	Aorta	Aorta
12	chr2:173294600-173296400	Active TSS	Adipose Nuclei	Adipose
13	chr2:173294600-173297200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:173294600-173297200	Weak transcription	Gastric	stomach
15	chr2:173294600-173298000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:173294600-173302400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:173294600-173302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:173294600-173302600	Weak transcription	NH-A	brain
19	chr2:173294600-173303000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:173294600-173303400	Weak transcription	NHLF	lung
21	chr2:173294800-173296200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:173294800-173296200	Weak transcription	Fetal Thymus	thymus
23	chr2:173294800-173296400	Enhancers	Hela-S3	cervix
24	chr2:173294800-173296800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:173294800-173296800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:173294800-173296800	Weak transcription	Brain Substantia Nigra	brain
27	chr2:173294800-173297400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:173294800-173297400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:173294800-173297400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:173294800-173297400	Weak transcription	Esophagus	oesophagus
31	chr2:173294800-173297600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:173294800-173298200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:173294800-173298200	Enhancers	HepG2	liver
34	chr2:173294800-173299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:173294800-173299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:173294800-173302400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:173294800-173302400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:173294800-173306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:173294800-173308800	Enhancers	Stomach Mucosa	stomach
40	chr2:173295000-173296200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:173295000-173296200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:173295000-173296200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:173295000-173296200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:173295000-173296800	Weak transcription	Brain Anterior Caudate	brain
45	chr2:173295000-173297200	Weak transcription	Thymus	Thymus
46	chr2:173295000-173298600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:173295000-173299000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr2:173295000-173299400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:173295000-173299400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr2:173295000-173300800	Enhancers	Primary hematopoietic stem cells	blood

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