Variant report

Variant	rs3094122
Chromosome Location	chr6:30728360-30728361
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	chr6:30726903..30729816-chr6:30736090..30739671,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2394401	0.83[ASN][1000 genomes]
rs3095339	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3130671	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3130672	0.84[AMR][1000 genomes]
rs3131035	0.84[EUR][1000 genomes]
rs3131036	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3132601	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9262172	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
8	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
9	nsv884101	chr6:30695920-30733121	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	163 gene(s)	inside rSNPs	diseases
10	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
11	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
12	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3094122	HIST1H2AM	cis	cerebellum	SCAN
rs3094122	NKAPL	cis	cerebellum	SCAN
rs3094122	ZNF165	cis	parietal	SCAN
rs3094122	HIST1H3J	cis	parietal	SCAN
rs3094122	BTN3A2	cis	multi-tissue	Pritchard

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30719800-30731600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:30720400-30731000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30720600-30736600	Weak transcription	Gastric	stomach
4	chr6:30724000-30731400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:30725200-30728600	Enhancers	NH-A	brain
6	chr6:30725200-30729800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:30725400-30730000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:30725600-30731000	Weak transcription	Primary T cells from cord blood	blood
9	chr6:30726200-30729800	Enhancers	HSMMtube	muscle
10	chr6:30726200-30730000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:30726400-30729200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:30726400-30730200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:30726600-30729400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr6:30726600-30729800	Enhancers	HMEC	breast
15	chr6:30726600-30729800	Enhancers	NHEK	skin
16	chr6:30726800-30731000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:30726800-30739000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:30727000-30728400	Weak transcription	Fetal Kidney	kidney
19	chr6:30727200-30728400	Enhancers	NHDF-Ad	bronchial
20	chr6:30727200-30729000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:30727200-30729000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:30727200-30729800	Enhancers	Osteobl	bone
23	chr6:30727200-30730200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:30727200-30730400	Enhancers	A549	lung
25	chr6:30727200-30731000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:30727200-30731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:30727200-30731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr6:30727200-30731200	Weak transcription	K562	blood
29	chr6:30727400-30728400	Enhancers	Rectal Smooth Muscle	rectum
30	chr6:30727400-30729000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:30727400-30729200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:30727400-30729600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:30727400-30731000	Enhancers	HepG2	liver
34	chr6:30727400-30731200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:30727600-30729800	Enhancers	Colon Smooth Muscle	Colon
36	chr6:30727600-30731200	Weak transcription	Fetal Stomach	stomach
37	chr6:30727800-30729000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr6:30727800-30731000	Weak transcription	Fetal Intestine Small	intestine
39	chr6:30727800-30731400	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:30728000-30729000	Weak transcription	Hela-S3	cervix
41	chr6:30728000-30729200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:30728000-30729200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:30728000-30729200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:30728000-30731000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:30728000-30731200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:30728000-30731200	Weak transcription	Pancreas	Pancrea
47	chr6:30728000-30731200	Weak transcription	Right Atrium	heart
48	chr6:30728000-30731200	Weak transcription	HUVEC	blood vessel
49	chr6:30728000-30731400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:30728000-30731400	Weak transcription	Stomach Smooth Muscle	stomach

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