Variant report

Variant	rs11975449
Chromosome Location	chr7:7456335-7456336
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7391197..7393340-chr7:7455899..7457673,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1024714	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs17167528	0.90[CHB][hapmap]
rs4035103	0.91[CEU][hapmap]
rs4035105	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs4503020	0.92[CEU][hapmap];0.81[GIH][hapmap]
rs58681001	0.83[EUR][1000 genomes]
rs6945047	0.92[CEU][hapmap]
rs6946354	0.92[CEU][hapmap];0.81[GIH][hapmap]
rs6962404	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6971476	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs6979399	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73334139	0.83[EUR][1000 genomes]
rs7787580	0.83[CEU][hapmap]
rs7802944	0.92[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs7807860	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv606039	chr7:7317590-7497676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1020988	chr7:7348251-7497484	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
16	nsv1020181	chr7:7448657-7484862	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7447800-7463800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:7447800-7464200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:7451200-7464000	Weak transcription	Gastric	stomach
4	chr7:7452600-7456400	Enhancers	Fetal Intestine Large	intestine
5	chr7:7452800-7457000	Enhancers	Fetal Intestine Small	intestine
6	chr7:7453600-7457000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:7454400-7464200	Weak transcription	Small Intestine	intestine
8	chr7:7455000-7457000	Enhancers	Stomach Mucosa	stomach
9	chr7:7455000-7458000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:7455200-7456600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr7:7455200-7478600	Weak transcription	Pancreas	Pancrea
12	chr7:7455600-7457000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:7455600-7457000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:7455600-7457000	Enhancers	Fetal Lung	lung
15	chr7:7455800-7456400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:7455800-7456400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:7455800-7456400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:7455800-7456400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:7455800-7456400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr7:7455800-7456400	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:7455800-7456400	Enhancers	HMEC	breast
22	chr7:7455800-7456400	Enhancers	Osteobl	bone
23	chr7:7455800-7456600	Enhancers	NHEK	skin
24	chr7:7455800-7457000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:7456000-7456400	Enhancers	Primary B cells from cord blood	blood
26	chr7:7456000-7456400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr7:7456000-7456400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:7456000-7456400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:7456000-7456600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:7456000-7456800	Enhancers	Primary T cells from cord blood	blood
31	chr7:7456000-7457200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:7456000-7458200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:7456200-7457000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:7456200-7464200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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