Variant report

Variant	rs731638
Chromosome Location	chr2:100190979-100190980
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100190136..100191330-chr2:100252785..100253901,32	MCF-7	breast:
2	chr2:100190256..100191243-chr2:100225950..100226862,8	MCF-7	breast:
3	chr2:100190342..100191200-chr2:100233896..100234953,5	MCF-7	breast:
4	chr2:100185857..100187618-chr2:100189225..100191033,2	K562	blood:
5	chr2:100190301..100191259-chr2:100225983..100226938,12	MCF-7	breast:
6	chr2:100147622..100148522-chr2:100190245..100191240,3	MCF-7	breast:
7	chr2:100190277..100191226-chr2:100630057..100630911,3	MCF-7	breast:
8	chr2:100190245..100191307-chr2:100252548..100253839,52	MCF-7	breast:
9	chr2:100190297..100191222-chr2:100234070..100234978,10	MCF-7	breast:
10	chr2:100190175..100191220-chr2:100225883..100227013,29	MCF-7	breast:
11	chr2:100190332..100191222-chr2:100234137..100234978,5	MCF-7	breast:
12	chr2:100190593..100193147-chr2:100224653..100226981,2	MCF-7	breast:
13	chr2:100147622..100148522-chr2:100190245..100191240,6	MCF-7	breast:
14	chr2:100190245..100191307-chr2:100252548..100253839,102	MCF-7	breast:

No data

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6719359	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100161800-100211200	Weak transcription	Fetal Kidney	kidney
2	chr2:100162600-100193400	Weak transcription	Liver	Liver
3	chr2:100162800-100219200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:100163200-100203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:100164000-100204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:100167600-100202000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:100169200-100193200	Weak transcription	Fetal Thymus	thymus
8	chr2:100171000-100194000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:100171200-100202600	Weak transcription	Gastric	stomach
10	chr2:100171400-100203800	Weak transcription	Aorta	Aorta
11	chr2:100171400-100203800	Weak transcription	Spleen	Spleen
12	chr2:100172600-100209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:100173200-100194800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:100173400-100202600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:100177400-100204000	Weak transcription	Fetal Heart	heart
16	chr2:100182000-100193800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:100183600-100195200	Strong transcription	Primary B cells from cord blood	blood
18	chr2:100184200-100196800	Weak transcription	Lung	lung
19	chr2:100184200-100206600	Weak transcription	Esophagus	oesophagus
20	chr2:100184400-100211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:100184600-100193200	Weak transcription	Thymus	Thymus
22	chr2:100184600-100193400	Weak transcription	Dnd41	blood
23	chr2:100184800-100193200	Weak transcription	Adipose Nuclei	Adipose
24	chr2:100186000-100191600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:100186400-100191400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:100186400-100192800	Enhancers	Fetal Brain Male	brain
27	chr2:100186800-100193400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:100186800-100214600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:100187200-100191600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:100187200-100192200	Enhancers	Brain Germinal Matrix	brain
31	chr2:100187200-100193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:100187400-100191200	Weak transcription	Ovary	ovary
33	chr2:100187400-100192800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:100187600-100191400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:100187800-100193400	Weak transcription	Fetal Lung	lung
36	chr2:100187800-100211600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:100188200-100210400	Weak transcription	Brain Substantia Nigra	brain
38	chr2:100188400-100205000	Weak transcription	Brain Angular Gyrus	brain
39	chr2:100188400-100205000	Weak transcription	Brain Anterior Caudate	brain
40	chr2:100188400-100206800	Weak transcription	Placenta	Placenta
41	chr2:100189400-100191600	Enhancers	Fetal Muscle Leg	muscle
42	chr2:100189400-100202800	Weak transcription	NH-A	brain
43	chr2:100189600-100191400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:100189600-100192000	Enhancers	Fetal Brain Female	brain
45	chr2:100189600-100193400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:100189600-100202000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:100190000-100191200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:100190000-100193200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:100190000-100193400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:100190200-100191000	Enhancers	Right Atrium	heart

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