Variant report

Variant	rs12121091
Chromosome Location	chr1:95350320-95350321
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95348432..95350696-chr1:95351347..95353211,2	K562	blood:
2	chr1:95350050..95353595-chr1:95355510..95359061,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11165272	0.84[EUR][1000 genomes]
rs11165274	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs12125005	0.81[EUR][1000 genomes]
rs12132647	0.84[EUR][1000 genomes]
rs12140798	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12144222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747335	0.84[EUR][1000 genomes]
rs2275612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275613	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3789699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3818929	1.00[CEU][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4847368	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs61772600	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs859054	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12121091	CNN3	cis	parietal	SCAN
rs12121091	BARHL2	cis	parietal	SCAN
rs12121091	SLC44A3	cis	parietal	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95329000-95385000	Weak transcription	Colonic Mucosa	Colon
2	chr1:95333200-95370000	Weak transcription	Small Intestine	intestine
3	chr1:95340200-95361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:95342600-95356000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:95343400-95361400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:95344600-95356000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:95346400-95353800	Strong transcription	Fetal Intestine Small	intestine
8	chr1:95347000-95350800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:95347800-95354800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:95348000-95350800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:95348000-95354400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:95348200-95352400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:95348400-95350600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:95348400-95360200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:95348600-95350400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:95348600-95350400	Enhancers	Esophagus	oesophagus
17	chr1:95348600-95351000	Enhancers	NHLF	lung
18	chr1:95348600-95351600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:95348800-95350400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:95348800-95350400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:95348800-95350400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:95348800-95350600	Enhancers	Placenta	Placenta
23	chr1:95348800-95351400	Enhancers	Ovary	ovary
24	chr1:95348800-95351400	Enhancers	HSMMtube	muscle
25	chr1:95348800-95354800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:95348800-95354800	Enhancers	Fetal Muscle Leg	muscle
27	chr1:95348800-95360800	Weak transcription	Lung	lung
28	chr1:95349000-95350400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:95349000-95350400	Enhancers	Brain Angular Gyrus	brain
30	chr1:95349000-95350400	Enhancers	Fetal Kidney	kidney
31	chr1:95349000-95350600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:95349000-95351000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:95349000-95351200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:95349000-95352400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:95349000-95357800	Weak transcription	Pancreas	Pancrea
36	chr1:95349200-95350400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:95349200-95350400	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:95349200-95350400	Enhancers	Fetal Stomach	stomach
39	chr1:95349200-95350400	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:95349200-95350400	Enhancers	HMEC	breast
41	chr1:95349200-95350400	Enhancers	NH-A	brain
42	chr1:95349200-95350600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:95349200-95351200	Enhancers	Brain Substantia Nigra	brain
44	chr1:95349400-95350400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:95349400-95350400	Enhancers	Aorta	Aorta
46	chr1:95349400-95350400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:95349400-95350400	Enhancers	Osteobl	bone
48	chr1:95349400-95350800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:95349400-95350800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:95349600-95350400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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