Variant report

Variant	rs12612567
Chromosome Location	chr2:97628666-97628667
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	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
2	chr2:97523891..97526324-chr2:97628583..97631770,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12615663	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12621558	1.00[CEU][hapmap]
rs13421281	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv32727	chr2:97616488-97643975	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97620400-97629400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:97620800-97629600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:97620800-97643600	Weak transcription	Right Atrium	heart
4	chr2:97624200-97629800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:97625400-97629600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:97625600-97630600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:97625600-97631200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:97625600-97634200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:97626000-97629000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:97626000-97629800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:97626000-97631000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:97626200-97629200	Weak transcription	Spleen	Spleen
13	chr2:97626200-97630400	Enhancers	Dnd41	blood
14	chr2:97626200-97635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:97626400-97629600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:97626400-97629600	Enhancers	GM12878-XiMat	blood
17	chr2:97626400-97630200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:97626600-97629200	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:97626600-97629800	Enhancers	Fetal Thymus	thymus
20	chr2:97626600-97631800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:97626600-97631800	Weak transcription	Brain Substantia Nigra	brain
22	chr2:97626800-97628800	Weak transcription	Placenta	Placenta
23	chr2:97626800-97629200	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:97626800-97629200	Weak transcription	Esophagus	oesophagus
25	chr2:97626800-97629400	Enhancers	Primary B cells from cord blood	blood
26	chr2:97626800-97633000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:97627200-97628800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:97627200-97629200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:97627200-97630000	Enhancers	Thymus	Thymus
30	chr2:97627400-97628800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr2:97627400-97628800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:97627400-97629400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr2:97627400-97629400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:97627600-97629000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:97627600-97629200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:97627600-97629200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:97627600-97630000	Weak transcription	Colonic Mucosa	Colon
38	chr2:97627800-97629200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:97627800-97629400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:97628200-97628800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:97628200-97628800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:97628200-97628800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:97628200-97629400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:97628400-97628800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:97628400-97628800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:97628400-97628800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr2:97628400-97628800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:97628400-97629000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:97628400-97629200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr2:97628400-97629200	Enhancers	NHEK	skin

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