Variant report

Variant	rs194844
Chromosome Location	chr7:103771201-103771202
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103769885..103772805-chr7:103778154..103780939,3	K562	blood:
2	chr7:103769811..103772030-chr7:103775156..103777907,2	K562	blood:
3	chr7:103761712..103763276-chr7:103769878..103771926,2	K562	blood:
4	chr7:103215795..103218619-chr7:103769174..103771262,2	K562	blood:
5	chr7:103766834..103768686-chr7:103770903..103773762,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10239281	0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs11773168	0.87[ASN][1000 genomes]
rs11984388	0.85[ASN][1000 genomes]
rs12705177	0.86[CHD][hapmap];0.85[ASN][1000 genomes]
rs194836	0.88[CHD][hapmap]
rs194837	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs194838	0.91[AFR][1000 genomes]
rs194839	0.84[ASN][1000 genomes]
rs194840	0.85[ASN][1000 genomes]
rs194842	0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs194850	0.86[ASN][1000 genomes]
rs194852	0.87[ASN][1000 genomes]
rs194853	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs194854	0.86[ASN][1000 genomes]
rs194855	0.82[ASW][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MKK][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs194856	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs194861	0.85[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs194862	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs194863	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs194864	0.88[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs194866	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2058720	0.84[ASN][1000 genomes]
rs2058721	0.85[ASN][1000 genomes]
rs2299407	0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs2307400	0.81[JPT][hapmap]
rs3808011	0.82[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs3808012	0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs3808013	0.88[CHD][hapmap];0.85[ASN][1000 genomes]
rs3808014	0.86[ASN][1000 genomes]
rs3808015	0.87[ASN][1000 genomes]
rs3823978	0.87[ASN][1000 genomes]
rs55848	0.86[ASN][1000 genomes]
rs6944360	0.87[ASN][1000 genomes]
rs6944653	0.87[ASN][1000 genomes]
rs6952639	0.87[ASN][1000 genomes]
rs6975834	0.81[CHD][hapmap]
rs6979022	0.85[ASN][1000 genomes]
rs6979695	0.85[ASN][1000 genomes]
rs9641322	0.81[CHD][hapmap];0.84[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs194844	LMBR1L	trans	cerebellum	SCAN
rs194844	ORAI2	cis	parietal	SCAN
rs194844	ATXN7L1	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103761400-103778600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:103762800-103774200	Weak transcription	HepG2	liver
3	chr7:103763000-103777600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:103763400-103773000	Weak transcription	Fetal Heart	heart
5	chr7:103763400-103774200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:103763400-103779400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:103763600-103776200	Weak transcription	Colonic Mucosa	Colon
8	chr7:103763800-103815000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:103764000-103783200	Weak transcription	NHLF	lung
10	chr7:103764000-103829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:103764400-103772400	Weak transcription	Fetal Intestine Large	intestine
12	chr7:103764400-103776200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:103764400-103776400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:103764400-103776400	Weak transcription	NH-A	brain
15	chr7:103764400-103777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:103764400-103778400	Weak transcription	NHDF-Ad	bronchial
17	chr7:103764400-103820200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:103764600-103772800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:103765000-103774600	Strong transcription	Primary B cells from cord blood	blood
20	chr7:103765400-103778000	Weak transcription	Stomach Mucosa	stomach
21	chr7:103765600-103815000	Weak transcription	Brain Angular Gyrus	brain
22	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
23	chr7:103765800-103776400	Weak transcription	Fetal Brain Female	brain
24	chr7:103766000-103774400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:103766000-103776200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:103766000-103778000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:103766200-103774000	Weak transcription	Lung	lung
28	chr7:103766200-103779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:103766200-103779000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:103766200-103800000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:103766200-103803800	Weak transcription	Pancreas	Pancrea
32	chr7:103766200-103816000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:103766200-103823600	Weak transcription	Esophagus	oesophagus
34	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
35	chr7:103766400-103774000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:103766400-103822600	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:103766600-103773200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:103767200-103772600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:103767200-103772600	Weak transcription	GM12878-XiMat	blood
40	chr7:103767200-103773800	Weak transcription	Fetal Stomach	stomach
41	chr7:103767200-103776800	Weak transcription	Brain Anterior Caudate	brain
42	chr7:103767200-103779000	Weak transcription	Fetal Brain Male	brain
43	chr7:103767200-103829200	Weak transcription	Gastric	stomach
44	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
45	chr7:103767400-103774000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:103767400-103778400	Weak transcription	Psoas Muscle	Psoas
47	chr7:103767600-103779000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:103767600-103820200	Weak transcription	Brain Germinal Matrix	brain
49	chr7:103768000-103779800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:103769000-103776800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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