Variant report

Variant	rs3094627
Chromosome Location	chr6:30321482-30321483
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	chr6:30119391..30121135-chr6:30321285..30322810,2	K562	blood:
2	chr6:30320856..30322716-chr6:30417806..30419569,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11961294	1.00[ASN][1000 genomes]
rs11970259	1.00[ASN][1000 genomes]
rs17188127	0.84[ASN][1000 genomes]
rs17188268	1.00[ASN][1000 genomes]
rs17195173	0.84[ASN][1000 genomes]
rs3094060	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094061	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56267944	0.85[ASN][1000 genomes]
rs56794784	0.85[ASN][1000 genomes]
rs58065720	1.00[ASN][1000 genomes]
rs59152891	1.00[ASN][1000 genomes]
rs59378373	0.84[ASN][1000 genomes]
rs59979159	1.00[ASN][1000 genomes]
rs61389055	0.85[ASN][1000 genomes]
rs6915913	0.85[ASN][1000 genomes]
rs73425422	1.00[ASN][1000 genomes]
rs73425423	0.85[ASN][1000 genomes]
rs73425443	1.00[ASN][1000 genomes]
rs73426399	0.84[ASN][1000 genomes]
rs73427516	0.85[ASN][1000 genomes]
rs73427550	0.85[ASN][1000 genomes]
rs73427555	0.85[ASN][1000 genomes]
rs73726125	1.00[ASN][1000 genomes]
rs7770049	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs3094627	BTN3A2	cis	multi-tissue	Pritchard
rs3094627	HLA-C	cis	multi-tissue	Pritchard
rs3094627	BTN2A1	cis	parietal	SCAN
rs3094627	HLA-DQB1	cis	multi-tissue	Pritchard
rs3094627	HLA-G	cis	multi-tissue	Pritchard
rs3094627	HLA-DRB1	cis	multi-tissue	Pritchard
rs3094627	ZNF323	cis	parietal	SCAN
rs3094627	ZNF192	cis	parietal	SCAN
rs3094627	HLA-A	cis	multi-tissue	Pritchard
rs3094627	HLA-DQA1	cis	multi-tissue	Pritchard
rs3094627	ZKSCAN3	cis	parietal	SCAN
rs3094627	HLA-H	cis	multi-tissue	Pritchard
rs3094627	HIST1H2BM	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30313800-30325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:30314000-30323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:30314000-30323200	Weak transcription	Aorta	Aorta
4	chr6:30314000-30324200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:30314000-30325600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:30314200-30322200	Weak transcription	Fetal Brain Male	brain
7	chr6:30314200-30323400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:30314200-30325600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:30314200-30325600	Weak transcription	Psoas Muscle	Psoas
10	chr6:30314400-30325000	Weak transcription	Esophagus	oesophagus
11	chr6:30314400-30325400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:30314600-30325600	Weak transcription	Pancreas	Pancrea
13	chr6:30315000-30323200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:30315000-30323400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:30315000-30325600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:30315000-30325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:30315000-30325600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:30315000-30325600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:30315200-30323200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:30315400-30323200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:30315600-30323200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:30315600-30324400	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:30315600-30325400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:30315600-30325400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:30315800-30324200	Weak transcription	Fetal Intestine Large	intestine
26	chr6:30316000-30325600	Weak transcription	Brain Angular Gyrus	brain
27	chr6:30316200-30322000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:30316200-30324400	Weak transcription	Fetal Intestine Small	intestine
29	chr6:30316200-30325800	Weak transcription	Gastric	stomach
30	chr6:30316600-30324200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:30320200-30321600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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