Variant report

Variant	rs7949171
Chromosome Location	chr11:35352800-35352801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35351151..35353961-chr11:35376008..35377580,2	MCF-7	breast:
2	chr11:35345567..35348254-chr11:35351098..35354051,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10488811	1.00[AMR][1000 genomes]
rs12280375	1.00[AMR][1000 genomes]
rs16927100	1.00[AMR][1000 genomes]
rs3847610	1.00[AMR][1000 genomes]
rs3847611	1.00[AMR][1000 genomes]
rs57427719	1.00[AMR][1000 genomes]
rs61045842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61142335	1.00[AMR][1000 genomes]
rs6484779	1.00[AMR][1000 genomes]
rs6484780	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6484782	1.00[AMR][1000 genomes]
rs6484783	1.00[AMR][1000 genomes]
rs7102654	1.00[AMR][1000 genomes]
rs7103913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114260	1.00[AMR][1000 genomes]
rs7121622	1.00[AMR][1000 genomes]
rs7130549	1.00[AMR][1000 genomes]
rs7131062	1.00[AMR][1000 genomes]
rs724474	1.00[AMR][1000 genomes]
rs73436972	1.00[AMR][1000 genomes]
rs73436976	1.00[AMR][1000 genomes]
rs73439121	1.00[AMR][1000 genomes]
rs73439149	1.00[AMR][1000 genomes]
rs7926777	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7926910	1.00[AMR][1000 genomes]
rs7927023	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7927263	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7934506	1.00[AMR][1000 genomes]
rs7936164	1.00[AMR][1000 genomes]
rs7939095	1.00[AMR][1000 genomes]
rs7939877	1.00[AMR][1000 genomes]
rs7939959	0.80[MKK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7940317	1.00[AMR][1000 genomes]
rs7945276	1.00[AMR][1000 genomes]
rs7952042	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2758264	chr11:35319320-35480522	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759819	chr11:35319320-35480522	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35339000-35358000	Weak transcription	HepG2	liver
2	chr11:35344400-35353200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:35347000-35356000	Weak transcription	NHLF	lung
4	chr11:35347800-35356000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:35348400-35356000	Weak transcription	NHDF-Ad	bronchial
6	chr11:35348400-35356600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr11:35348400-35358000	Weak transcription	Hela-S3	cervix
8	chr11:35349200-35354200	Enhancers	Primary T cells from cord blood	blood
9	chr11:35349200-35354600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:35349200-35354800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:35349200-35357000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:35349800-35352800	Enhancers	Stomach Smooth Muscle	stomach
13	chr11:35350200-35352800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr11:35350400-35358200	Weak transcription	Placenta	Placenta
15	chr11:35350600-35353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:35350600-35354800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:35350800-35356200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr11:35351200-35352800	Enhancers	Left Ventricle	heart
19	chr11:35351200-35353000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:35351200-35354000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:35351200-35354000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:35351200-35354000	Enhancers	Pancreas	Pancrea
23	chr11:35351200-35354400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:35351200-35354600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr11:35351200-35354600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr11:35351400-35353000	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:35351400-35354400	Enhancers	Brain Angular Gyrus	brain
28	chr11:35351400-35357200	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:35351600-35352800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:35351600-35353000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:35351800-35352800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:35351800-35353000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:35351800-35353200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:35351800-35353400	Enhancers	Fetal Thymus	thymus
35	chr11:35351800-35353600	Enhancers	Primary B cells from cord blood	blood
36	chr11:35352000-35353000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:35352000-35353000	Enhancers	Spleen	Spleen
38	chr11:35352000-35353000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr11:35352000-35353400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:35352000-35353400	Enhancers	Brain Hippocampus Middle	brain
41	chr11:35352000-35354600	Enhancers	Brain Substantia Nigra	brain
42	chr11:35352200-35352800	Enhancers	Stomach Mucosa	stomach
43	chr11:35352200-35353600	Weak transcription	Fetal Brain Male	brain
44	chr11:35352200-35354600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:35352400-35352800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:35352400-35352800	Flanking Active TSS	GM12878-XiMat	blood
47	chr11:35352400-35354600	Enhancers	Brain Anterior Caudate	brain
48	chr11:35352400-35355600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:35352600-35352800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:35352600-35352800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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