Variant report

Variant	rs7311889
Chromosome Location	chr12:12239620-12239621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12237772..12239926-chr12:12242513..12244512,2	K562	blood:
2	chr12:12238838..12240368-chr12:12419597..12421163,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2448044	0.89[AFR][1000 genomes]
rs7297820	1.00[YRI][hapmap]
rs7297825	1.00[YRI][hapmap]
rs7311616	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
2	nsv975623	chr12:12238184-12243964	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv557583	chr12:12238317-12253591	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12225000-12255000	Weak transcription	Small Intestine	intestine
2	chr12:12225800-12240200	Weak transcription	Fetal Stomach	stomach
3	chr12:12226600-12245000	Weak transcription	Fetal Brain Male	brain
4	chr12:12232800-12240000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle
6	chr12:12234800-12259600	Weak transcription	Aorta	Aorta
7	chr12:12235200-12242000	Weak transcription	NHLF	lung
8	chr12:12235400-12239800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:12235400-12243600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:12235400-12244600	Weak transcription	Colonic Mucosa	Colon
11	chr12:12235400-12245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:12235400-12245200	Weak transcription	Pancreas	Pancrea
13	chr12:12235400-12260200	Weak transcription	Gastric	stomach
14	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:12235600-12240800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:12236400-12240000	Weak transcription	Stomach Mucosa	stomach
18	chr12:12237400-12259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:12238000-12245000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr12:12238200-12240000	Genic enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:12238400-12240200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:12238400-12241000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:12238400-12241000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:12238600-12241200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:12238600-12241800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:12238600-12242000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:12238800-12240200	Weak transcription	Fetal Intestine Large	intestine
28	chr12:12239000-12240200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:12239000-12241200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:12239200-12240600	Enhancers	Brain Germinal Matrix	brain
31	chr12:12239200-12241000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:12239200-12241000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:12239200-12241200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:12239200-12241200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:12239200-12241800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:12239400-12241000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:12239400-12241200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:12239400-12241800	Enhancers	HepG2	liver
39	chr12:12239600-12239800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr12:12239600-12240600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:12239600-12240800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:12239600-12240800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:12239600-12240800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:12239600-12241000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:12239600-12241400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:12239600-12249200	Strong transcription	Fetal Intestine Small	intestine

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