Variant report

Variant	rs57302671
Chromosome Location	chr6:30629165-30629166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30609523..30619025-chr6:30620991..30630753,19	MCF-7	breast:
2	chr6:30618609..30620115-chr6:30628547..30631052,2	MCF-7	breast:
3	chr6:30628328..30630913-chr6:30689339..30690997,2	K562	blood:
4	chr6:30628258..30631199-chr6:30686594..30688662,2	K562	blood:
5	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:

Variant related genes	Relation type
ENSG00000204568	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204564	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17189246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2239887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249059	0.83[ASN][1000 genomes]
rs2269703	0.88[ASN][1000 genomes]
rs2269708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28986466	0.88[ASN][1000 genomes]
rs3130663	0.88[ASN][1000 genomes]
rs3778628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3814959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41272997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41273001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60447066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73422011	0.97[ASN][1000 genomes]
rs73422013	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
2	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
3	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
4	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
5	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
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30616200-30630800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:30616200-30639800	Weak transcription	Right Atrium	heart
3	chr6:30617200-30636200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:30617200-30636400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:30617200-30636600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:30617200-30638600	Strong transcription	Fetal Stomach	stomach
7	chr6:30617200-30638600	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:30617200-30638800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:30617200-30638800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:30617200-30639000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:30617200-30639000	Strong transcription	Fetal Intestine Small	intestine
12	chr6:30617200-30639000	Strong transcription	Thymus	Thymus
13	chr6:30617400-30630800	Strong transcription	Right Ventricle	heart
14	chr6:30617400-30634200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:30617400-30636000	Strong transcription	Colon Smooth Muscle	Colon
16	chr6:30617400-30636400	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:30617400-30636600	Strong transcription	Rectal Smooth Muscle	rectum
18	chr6:30617400-30638400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr6:30617400-30638600	Strong transcription	Fetal Thymus	thymus
20	chr6:30617400-30638800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:30617400-30639000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr6:30617400-30639000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr6:30617400-30639200	Strong transcription	Fetal Muscle Leg	muscle
24	chr6:30617600-30633800	Strong transcription	Left Ventricle	heart
25	chr6:30617600-30634200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:30617600-30638800	Strong transcription	Primary T cells from cord blood	blood
27	chr6:30617600-30638800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:30617600-30639000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:30617600-30639000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:30618000-30638600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:30618200-30634600	Strong transcription	Brain Anterior Caudate	brain
32	chr6:30618400-30638000	Strong transcription	Fetal Brain Female	brain
33	chr6:30618600-30633800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:30618600-30633800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:30618600-30633800	Strong transcription	K562	blood
36	chr6:30618600-30634000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:30618600-30634200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr6:30618600-30634400	Strong transcription	Gastric	stomach
39	chr6:30618600-30634600	Strong transcription	Colonic Mucosa	Colon
40	chr6:30618600-30635800	Strong transcription	Lung	lung
41	chr6:30618600-30636200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:30618600-30636600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr6:30618600-30636600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:30618600-30636800	Strong transcription	Fetal Intestine Large	intestine
45	chr6:30618600-30638400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:30618600-30638400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr6:30618600-30638600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:30618600-30638600	Strong transcription	Brain Cingulate Gyrus	brain
49	chr6:30618600-30638800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:30618600-30639000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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