Variant report

Variant	rs12196135
Chromosome Location	chr6:16701334-16701335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:16698759..16701393-chr6:16707200..16708969,2	MCF-7	breast:
2	chr6:16700366..16702608-chr6:16759139..16762099,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124788	Chromatin interaction
ENSG00000229931	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16878738	1.00[TSI][hapmap]
rs2209026	1.00[TSI][hapmap]

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	nsv532022	chr6:16448152-16825567	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031423	chr6:16467215-16823725	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr6:16695800-16705000	Weak transcription	Pancreas	Pancrea
2	chr6:16697600-16701600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:16697800-16701600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:16698000-16701400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:16698000-16701400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:16698000-16701800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:16698200-16701400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:16698400-16705200	Weak transcription	Stomach Mucosa	stomach
9	chr6:16698400-16706000	Weak transcription	Gastric	stomach
10	chr6:16698600-16705000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:16699200-16701600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:16699200-16701600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:16699200-16701600	Enhancers	Fetal Heart	heart
14	chr6:16699400-16701600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr6:16699400-16701600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:16699400-16701600	Enhancers	Liver	Liver
17	chr6:16699400-16701600	Enhancers	Small Intestine	intestine
18	chr6:16699600-16701400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:16699600-16701400	Enhancers	Fetal Lung	lung
20	chr6:16699600-16701400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr6:16699800-16701400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:16699800-16701400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:16699800-16701800	Enhancers	Fetal Stomach	stomach
24	chr6:16700000-16701600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr6:16700200-16701400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:16700200-16701600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr6:16700200-16701600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr6:16700400-16701400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:16700400-16701400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:16700400-16701600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr6:16700400-16701600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:16700400-16701600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:16700400-16701600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:16700400-16701600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr6:16700400-16701600	Enhancers	Left Ventricle	heart
36	chr6:16700400-16701600	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr6:16700400-16701600	Enhancers	Right Ventricle	heart
38	chr6:16700400-16701600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr6:16700600-16701400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:16700600-16701400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:16700600-16701400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr6:16700600-16701400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:16700600-16701400	Active TSS	Colonic Mucosa	Colon
44	chr6:16700600-16701400	Enhancers	Fetal Intestine Small	intestine
45	chr6:16700600-16701400	Flanking Active TSS	GM12878-XiMat	blood
46	chr6:16700600-16701400	Flanking Active TSS	HMEC	breast
47	chr6:16700600-16701400	Flanking Active TSS	Osteobl	bone
48	chr6:16700600-16701600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:16700600-16701600	Enhancers	Esophagus	oesophagus
50	chr6:16700600-16701600	Enhancers	Lung	lung

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