Variant report

Variant	rs17195712
Chromosome Location	chr6:30697616-30697617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30510302..30512200-chr6:30697195..30698845,2	K562	blood:
2	chr6:30614002..30615916-chr6:30697088..30699807,3	MCF-7	breast:
3	chr6:30696761..30700438-chr6:30779538..30781456,3	K562	blood:
4	chr6:30565122..30567230-chr6:30697537..30699633,2	MCF-7	breast:
5	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
6	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
7	chr6:30696071..30700958-chr6:30848494..30852857,5	MCF-7	breast:
8	chr6:30580720..30584703-chr6:30697012..30700631,3	MCF-7	breast:
9	chr6:30697464..30700197-chr6:30850682..30852758,2	MCF-7	breast:
10	chr6:30697310..30700466-chr6:30842100..30845469,3	K562	blood:
11	chr6:30642470..30648471-chr6:30697241..30700740,8	MCF-7	breast:
12	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:
13	chr6:30632526..30634851-chr6:30696078..30697693,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137404	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000230449	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1049943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10947088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1136719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1264352	0.83[ASN][1000 genomes]
rs15297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189329	0.85[ASN][1000 genomes]
rs17719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28600807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094128	0.97[ASN][1000 genomes]
rs3130662	1.00[ASN][1000 genomes]
rs3909184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270529	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58638768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv970736	chr6:30692055-30710740	Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30690000-30709600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30690200-30699200	Strong transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:30690400-30709200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:30690600-30698000	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr6:30690600-30698200	Strong transcription	Left Ventricle	heart
6	chr6:30690600-30698400	Strong transcription	Right Ventricle	heart
7	chr6:30690600-30701200	Strong transcription	Brain Angular Gyrus	brain
8	chr6:30690600-30703800	Strong transcription	Lung	lung
9	chr6:30691000-30697800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:30691000-30698000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:30691000-30698000	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:30691000-30698200	Strong transcription	Fetal Intestine Large	intestine
13	chr6:30691000-30698400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:30691000-30698400	Strong transcription	Brain Anterior Caudate	brain
15	chr6:30691000-30698400	Strong transcription	Brain Hippocampus Middle	brain
16	chr6:30691000-30703800	Strong transcription	Brain Cingulate Gyrus	brain
17	chr6:30691200-30697800	Strong transcription	Placenta	Placenta
18	chr6:30691600-30698000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:30691600-30698000	Strong transcription	Fetal Intestine Small	intestine
20	chr6:30691800-30698000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:30692000-30698200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:30692000-30698200	Strong transcription	Colonic Mucosa	Colon
23	chr6:30692200-30698200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr6:30692600-30708200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:30693000-30698000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:30693000-30698000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr6:30693200-30698200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:30693200-30698200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:30693200-30698400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:30693200-30708800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:30693400-30698400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr6:30693400-30709000	Strong transcription	Fetal Stomach	stomach
33	chr6:30693600-30698200	Strong transcription	Primary T cells from cord blood	blood
34	chr6:30693800-30697800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:30693800-30698200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:30693800-30698400	Strong transcription	K562	blood
37	chr6:30693800-30704200	Strong transcription	Fetal Lung	lung
38	chr6:30693800-30709000	Strong transcription	Fetal Brain Female	brain
39	chr6:30694000-30698000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:30694000-30698000	Weak transcription	Fetal Heart	heart
41	chr6:30694000-30698200	Strong transcription	Fetal Thymus	thymus
42	chr6:30694000-30708800	Weak transcription	Fetal Brain Male	brain
43	chr6:30694200-30698200	Strong transcription	Spleen	Spleen
44	chr6:30694200-30698600	Strong transcription	Brain Germinal Matrix	brain
45	chr6:30694200-30705600	Weak transcription	Small Intestine	intestine
46	chr6:30694400-30698200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr6:30694400-30698200	Strong transcription	Adipose Nuclei	Adipose
48	chr6:30694400-30698200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:30694400-30698200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:30694400-30698400	Strong transcription	Fetal Muscle Leg	muscle

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