Variant report

Variant	rs10209114
Chromosome Location	chr2:67626338-67626339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr2:67626104-67626878	A549	lung:	n/a	n/a
2	GATA3	chr2:67626134-67626904	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr2:67626038-67626652	A549	lung:	n/a	chr2:67626456-67626465
4	FOXA2	chr2:67626193-67626797	A549	lung:	n/a	chr2:67626565-67626577
5	POLR2A	chr2:67625827-67626341	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:67623954-67626667	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr2:67623956-67626463	IMR90	lung:	n/a	n/a
8	GATA3	chr2:67625997-67626904	A549	lung:	n/a	n/a
9	BCL3	chr2:67625801-67626673	A549	lung:	n/a	n/a
10	POLR2A	chr2:67625891-67626428	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:67625062..67626828-chr2:67638770..67641070,2	K562	blood:
2	chr2:67625121..67629368-chr2:67632495..67635938,4	K562	blood:
3	chr2:67625330..67628840-chr2:67664328..67668176,3	MCF-7	breast:
4	chr2:67624773..67626495-chr2:67711958..67714968,3	MCF-7	breast:
5	chr2:67624297..67626969-chr2:67629233..67631299,3	K562	blood:
6	chr2:67624567..67629481-chr2:67631992..67635938,6	K562	blood:
7	chr2:67623626..67627299-chr2:67629860..67634637,7	MCF-7	breast:
8	chr2:67625560..67628357-chr2:68014133..68016829,2	K562	blood:
9	chr2:67622928..67625891-chr2:67626088..67629064,3	K562	blood:

No data

Variant related genes	Relation type
ETAA1	TF binding region
ENSG00000143971	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10183213	1.00[CEU][hapmap]

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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67624000-67626400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:67624000-67626400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:67624000-67626600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:67625000-67629000	Flanking Active TSS	HUVEC	blood vessel
5	chr2:67625200-67630600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:67625200-67633000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:67625200-67638200	Weak transcription	Left Ventricle	heart
8	chr2:67625400-67626400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:67625400-67626400	Enhancers	Liver	Liver
10	chr2:67625400-67626400	Enhancers	NHDF-Ad	bronchial
11	chr2:67625400-67626800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:67625400-67627200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:67625400-67627200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:67625400-67627200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:67625400-67627200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:67625400-67627200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:67625400-67627200	Weak transcription	Stomach Mucosa	stomach
18	chr2:67625400-67627800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:67625400-67629200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:67625400-67629200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:67625400-67629400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:67625400-67629600	Weak transcription	Primary B cells from cord blood	blood
23	chr2:67625400-67629600	Enhancers	Osteobl	bone
24	chr2:67625400-67630000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:67625400-67630400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:67625400-67630600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:67625400-67630600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:67625400-67631200	Weak transcription	Brain Anterior Caudate	brain
29	chr2:67625400-67631200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:67625400-67633200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:67625400-67633800	Weak transcription	Brain Substantia Nigra	brain
32	chr2:67625400-67634400	Weak transcription	Ovary	ovary
33	chr2:67625400-67636000	Weak transcription	Brain Germinal Matrix	brain
34	chr2:67625400-67639400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:67625400-67639400	Weak transcription	Psoas Muscle	Psoas
36	chr2:67625400-67639800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:67625400-67640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:67625400-67640200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:67625400-67640400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:67625400-67641200	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:67625400-67641400	Weak transcription	HSMMtube	muscle
42	chr2:67625400-67643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:67625600-67626400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:67625600-67626400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:67625600-67626400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:67625600-67626400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:67625600-67626400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr2:67625600-67626400	Enhancers	Fetal Intestine Small	intestine
49	chr2:67625600-67626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:67625600-67626600	Enhancers	Primary T cells from cord blood	blood

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