Variant report

Variant	rs11695271
Chromosome Location	chr2:37425428-37425429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr2:37425023-37425546	GM12878	blood:	n/a	n/a
2	PBX3	chr2:37425287-37425434	GM12878	blood:	n/a	chr2:37425366-37425375
3	PAX5	chr2:37425011-37425446	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:37425263-37425839	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:37425337-37425503	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:37424691-37426324	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr2:37425411-37429342	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:37424938..37427231-chr2:37439674..37442605,2	K562	blood:
2	chr2:37425315..37427482-chr2:37493058..37494691,2	K562	blood:
3	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:
4	chr2:37424349..37426736-chr2:37447121..37449213,2	K562	blood:
5	chr2:37416656..37421292-chr2:37425395..37428971,5	MCF-7	breast:
6	chr2:37423198..37425602-chr2:37457469..37460195,6	K562	blood:
7	chr2:37424470..37426028-chr2:37473797..37476717,2	K562	blood:
8	chr2:37381640..37387428-chr2:37421417..37425727,6	MCF-7	breast:
9	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233159	TF binding region
SULT6B1	TF binding region
ENSG00000218739	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000055332	Chromatin interaction

rs_ID	r²[population]
rs10198835	0.95[ASN][1000 genomes]
rs11689186	0.82[ASN][1000 genomes]
rs13422415	0.95[ASN][1000 genomes]
rs28430450	0.95[ASN][1000 genomes]
rs2888444	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37418600-37427200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:37423200-37425600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:37423400-37425600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:37423400-37425600	Active TSS	GM12878-XiMat	blood
5	chr2:37423600-37425600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:37424400-37427600	Weak transcription	Lung	lung
7	chr2:37424400-37430800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:37424400-37433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:37424400-37446400	Weak transcription	Small Intestine	intestine
10	chr2:37424600-37425600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:37424600-37425600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:37424600-37425800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:37424600-37425800	Enhancers	Primary B cells from cord blood	blood
14	chr2:37424600-37426000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:37424600-37426000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:37424600-37426000	Enhancers	K562	blood
17	chr2:37424600-37426200	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:37424600-37426200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:37424600-37426200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:37424600-37426200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:37424600-37426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:37424600-37426400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:37424600-37426800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:37424600-37427200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:37424600-37429000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:37424600-37430400	Weak transcription	Fetal Heart	heart
27	chr2:37424600-37430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:37424600-37430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:37424600-37430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:37424600-37430800	Weak transcription	Brain Angular Gyrus	brain
31	chr2:37424600-37430800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:37424600-37430800	Weak transcription	Gastric	stomach
33	chr2:37424800-37425600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:37424800-37425800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:37424800-37425800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:37424800-37425800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:37424800-37425800	Enhancers	Colon Smooth Muscle	Colon
38	chr2:37424800-37426000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:37424800-37426200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:37424800-37426600	Weak transcription	A549	lung
41	chr2:37424800-37426800	Weak transcription	Brain Germinal Matrix	brain
42	chr2:37424800-37426800	Weak transcription	Fetal Lung	lung
43	chr2:37424800-37427000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:37424800-37427000	Weak transcription	Fetal Brain Female	brain
45	chr2:37424800-37427200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:37424800-37427200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:37424800-37427600	Weak transcription	Liver	Liver
48	chr2:37424800-37427600	Weak transcription	Brain Anterior Caudate	brain
49	chr2:37424800-37427600	Weak transcription	Fetal Stomach	stomach
50	chr2:37424800-37427600	Weak transcription	NH-A	brain

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