Variant report

Variant	rs6576988
Chromosome Location	chr2:97515943-97515944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97512699..97516587-chr2:97618220..97621285,3	MCF-7	breast:
2	chr2:97514683..97521467-chr2:97522142..97527634,7	K562	blood:
3	chr2:97513990..97521005-chr2:97521688..97524423,6	MCF-7	breast:
4	chr2:97508816..97511232-chr2:97512745..97516347,3	K562	blood:

Variant related genes	Relation type
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1047634	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11886360	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11892821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2314649	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34013660	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs56129857	1.00[EUR][1000 genomes]
rs58448521	1.00[EUR][1000 genomes]
rs6576977	1.00[EUR][1000 genomes]
rs6576985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576991	1.00[EUR][1000 genomes]
rs6707008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6713046	1.00[EUR][1000 genomes]
rs6733535	1.00[EUR][1000 genomes]
rs6733826	1.00[EUR][1000 genomes]
rs6744498	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6746421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748214	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6748234	1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759613	1.00[EUR][1000 genomes]
rs72945119	1.00[EUR][1000 genomes]
rs73960684	1.00[EUR][1000 genomes]
rs7569178	1.00[EUR][1000 genomes]
rs7570831	1.00[EUR][1000 genomes]
rs7580104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7587149	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7593340	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97484600-97518400	Weak transcription	HUVEC	blood vessel
2	chr2:97499200-97522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:97499600-97522800	Weak transcription	HSMM	muscle
4	chr2:97501000-97520600	Weak transcription	Fetal Brain Male	brain
5	chr2:97501200-97520600	Weak transcription	Hela-S3	cervix
6	chr2:97503600-97522600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:97505000-97520400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:97505600-97521800	Strong transcription	Fetal Stomach	stomach
9	chr2:97505600-97522400	Weak transcription	NH-A	brain
10	chr2:97505800-97516400	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:97505800-97518600	Weak transcription	NHLF	lung
12	chr2:97505800-97519200	Weak transcription	Esophagus	oesophagus
13	chr2:97505800-97520200	Strong transcription	Fetal Intestine Small	intestine
14	chr2:97505800-97520200	Weak transcription	HMEC	breast
15	chr2:97505800-97522400	Weak transcription	Stomach Mucosa	stomach
16	chr2:97506200-97516400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:97506200-97520400	Strong transcription	Thymus	Thymus
18	chr2:97508400-97517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:97508800-97520000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:97509800-97520600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:97510000-97521000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:97510200-97519600	Strong transcription	Ovary	ovary
23	chr2:97510200-97521000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:97510600-97516000	Weak transcription	Left Ventricle	heart
25	chr2:97510600-97522600	Weak transcription	Right Atrium	heart
26	chr2:97510800-97516800	Weak transcription	Psoas Muscle	Psoas
27	chr2:97510800-97519200	Weak transcription	Right Ventricle	heart
28	chr2:97511200-97516600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:97511200-97520400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:97511600-97520400	Strong transcription	Fetal Intestine Large	intestine
31	chr2:97511800-97519600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:97511800-97519600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:97511800-97520200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr2:97511800-97520200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr2:97511800-97520200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr2:97511800-97520400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:97511800-97520400	Strong transcription	Fetal Thymus	thymus
38	chr2:97511800-97520800	Strong transcription	Primary T cells from cord blood	blood
39	chr2:97511800-97520800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:97511800-97520800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:97512000-97519600	Strong transcription	Brain Germinal Matrix	brain
42	chr2:97512000-97520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:97512000-97520200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:97512000-97520200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:97512000-97520400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:97512000-97520400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:97512000-97520400	Strong transcription	Brain Substantia Nigra	brain
48	chr2:97512000-97520400	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:97512000-97520400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr2:97512200-97519600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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