Variant report

Variant	rs7311616
Chromosome Location	chr12:12239383-12239384
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: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs61733245	1.00[AMR][1000 genomes]
rs7137934	1.00[AMR][1000 genomes]
rs7297820	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297825	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305048	1.00[AMR][1000 genomes]
rs7311889	1.00[YRI][hapmap]
rs74062623	1.00[AMR][1000 genomes]
rs74064614	1.00[AMR][1000 genomes]
rs7959946	1.00[AMR][1000 genomes]

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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12225000-12255000	Weak transcription	Small Intestine	intestine
2	chr12:12225200-12239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:12225400-12239600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:12225400-12239600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12225800-12240200	Weak transcription	Fetal Stomach	stomach
6	chr12:12226600-12245000	Weak transcription	Fetal Brain Male	brain
7	chr12:12232800-12240000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle
9	chr12:12234800-12259600	Weak transcription	Aorta	Aorta
10	chr12:12235200-12242000	Weak transcription	NHLF	lung
11	chr12:12235400-12239400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:12235400-12239800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:12235400-12243600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:12235400-12244600	Weak transcription	Colonic Mucosa	Colon
15	chr12:12235400-12245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:12235400-12245200	Weak transcription	Pancreas	Pancrea
17	chr12:12235400-12260200	Weak transcription	Gastric	stomach
18	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:12235600-12240800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:12236400-12239400	Weak transcription	HepG2	liver
22	chr12:12236400-12240000	Weak transcription	Stomach Mucosa	stomach
23	chr12:12237200-12239600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:12237400-12259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:12238000-12245000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:12238200-12240000	Genic enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:12238400-12240200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:12238400-12241000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:12238400-12241000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:12238600-12239600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:12238600-12241200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:12238600-12241800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:12238600-12242000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:12238800-12240200	Weak transcription	Fetal Intestine Large	intestine
35	chr12:12239000-12240200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:12239000-12241200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:12239200-12239600	Genic enhancers	Fetal Intestine Small	intestine
38	chr12:12239200-12240600	Enhancers	Brain Germinal Matrix	brain
39	chr12:12239200-12241000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:12239200-12241000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:12239200-12241200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:12239200-12241200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:12239200-12241800	Enhancers	Cortex derived primary cultured neurospheres	brain

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