Variant report

Variant	rs1128930
Chromosome Location	chr6:44200325-44200326
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44193349..44195595-chr6:44198490..44203873,4	MCF-7	breast:
2	chr6:44117895..44119429-chr6:44199152..44201920,2	K562	blood:
3	chr6:44194649..44200475-chr6:44213732..44216333,8	MCF-7	breast:
4	chr6:44160798..44163455-chr6:44198500..44200872,2	MCF-7	breast:
5	chr6:44199025..44201599-chr6:44203689..44206993,5	MCF-7	breast:
6	chr6:44140799..44143611-chr6:44200264..44202558,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112759	Chromatin interaction
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12202977	0.85[ASN][1000 genomes]
rs12216216	0.87[ASN][1000 genomes]
rs1570920	0.86[ASN][1000 genomes]
rs2894567	0.80[ASN][1000 genomes]
rs3187	0.84[ASN][1000 genomes]
rs3734703	0.81[ASN][1000 genomes]
rs3734704	0.80[ASN][1000 genomes]
rs3757280	0.86[ASN][1000 genomes]
rs3757285	0.89[ASN][1000 genomes]
rs3757286	0.89[ASN][1000 genomes]
rs760370	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9367189	0.81[ASN][1000 genomes]
rs9367190	0.85[ASN][1000 genomes]
rs9381298	0.95[ASN][1000 genomes]
rs9381303	0.85[ASN][1000 genomes]
rs9394994	0.95[ASN][1000 genomes]
rs9394995	0.95[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS 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	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' 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	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44191600-44205000	Weak transcription	Small Intestine	intestine
2	chr6:44192200-44204800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:44192400-44201200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:44192400-44201400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:44192400-44205000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:44192800-44200800	Weak transcription	Primary T cells from cord blood	blood
7	chr6:44193200-44204800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:44194400-44202000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:44194600-44201000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:44194600-44202000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:44194800-44201600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:44194800-44202400	Weak transcription	Fetal Kidney	kidney
13	chr6:44195000-44202200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:44195000-44202800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:44195200-44201400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
16	chr6:44195200-44201800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:44195200-44202200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:44195200-44202600	Strong transcription	Dnd41	blood
19	chr6:44195400-44201400	Weak transcription	Stomach Mucosa	stomach
20	chr6:44195400-44201600	Weak transcription	Fetal Lung	lung
21	chr6:44195400-44202200	Weak transcription	Brain Germinal Matrix	brain
22	chr6:44195600-44201600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr6:44195600-44201800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:44195600-44201800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:44195600-44202000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:44195600-44202000	Genic enhancers	Adipose Nuclei	Adipose
27	chr6:44195600-44202200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:44195600-44202600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:44195600-44203000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr6:44195800-44200600	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:44195800-44201200	Strong transcription	Fetal Intestine Small	intestine
32	chr6:44195800-44201400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:44195800-44201600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:44196000-44200400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:44196000-44200800	Strong transcription	Thymus	Thymus
36	chr6:44196000-44201400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:44196000-44201400	Strong transcription	K562	blood
38	chr6:44196200-44201400	Strong transcription	Gastric	stomach
39	chr6:44196200-44201600	Genic enhancers	Placenta	Placenta
40	chr6:44196200-44201600	Genic enhancers	Right Ventricle	heart
41	chr6:44196400-44200600	Strong transcription	HUVEC	blood vessel
42	chr6:44196400-44201400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:44196400-44201600	Strong transcription	Lung	lung
44	chr6:44196600-44200600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:44196800-44201200	Strong transcription	Aorta	Aorta
46	chr6:44196800-44201600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:44197000-44200400	Weak transcription	Psoas Muscle	Psoas
48	chr6:44197000-44200600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:44197000-44200800	Weak transcription	Brain Anterior Caudate	brain
50	chr6:44197000-44200800	Strong transcription	Fetal Intestine Large	intestine

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