Variant report

Variant	rs833830
Chromosome Location	chr12:49338252-49338253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49333826..49338604-chr12:49339041..49343164,6	K562	blood:
2	chr12:49329355..49335445-chr12:49337368..49342700,9	MCF-7	breast:
3	chr12:49335548..49339838-chr12:49342673..49348492,5	K562	blood:
4	chr12:49332994..49335617-chr12:49335721..49338299,3	K562	blood:
5	chr12:49334719..49339630-chr12:49347637..49352407,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272822	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000255863	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs708242	0.81[ASW][hapmap]
rs7981004	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs833823	0.81[ASW][hapmap]
rs833824	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs833826	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs833829	0.81[ASW][hapmap]
rs833833	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs863855	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs941193	0.81[ASW][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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv899067	chr12:49329695-49344508	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:49319800-49349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:49320800-49338600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:49322800-49338600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:49323000-49338600	Strong transcription	GM12878-XiMat	blood
7	chr12:49323400-49338600	Strong transcription	HUVEC	blood vessel
8	chr12:49328400-49338600	Strong transcription	Dnd41	blood
9	chr12:49329400-49349400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:49330200-49339400	Weak transcription	Fetal Brain Male	brain
11	chr12:49330600-49341400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:49330800-49349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:49332000-49349000	Weak transcription	Stomach Mucosa	stomach
14	chr12:49333800-49349400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:49334200-49346200	Weak transcription	Fetal Kidney	kidney
16	chr12:49334600-49342200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:49334800-49339800	Weak transcription	Right Atrium	heart
18	chr12:49334800-49340600	Weak transcription	Fetal Lung	lung
19	chr12:49334800-49342600	Weak transcription	K562	blood
20	chr12:49334800-49343600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:49334800-49346000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:49334800-49346400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:49334800-49348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:49334800-49348600	Weak transcription	Small Intestine	intestine
25	chr12:49334800-49349400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:49334800-49349800	Weak transcription	Psoas Muscle	Psoas
27	chr12:49335000-49340000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:49335000-49340400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:49335000-49342200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:49335000-49346200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:49335000-49346600	Weak transcription	Ovary	ovary
32	chr12:49335000-49349400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:49335000-49349800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:49335200-49338600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:49335200-49339800	Weak transcription	Brain Angular Gyrus	brain
36	chr12:49335200-49339800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:49335200-49340000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:49335200-49340000	Weak transcription	Pancreas	Pancrea
39	chr12:49335200-49340200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:49335200-49340400	Weak transcription	Gastric	stomach
41	chr12:49335200-49340400	Weak transcription	Right Ventricle	heart
42	chr12:49335200-49340600	Weak transcription	HSMM	muscle
43	chr12:49335200-49346000	Weak transcription	NH-A	brain
44	chr12:49335200-49346200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:49335200-49346200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:49335200-49346400	Weak transcription	Aorta	Aorta
47	chr12:49335200-49349600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:49335400-49340400	Weak transcription	Lung	lung
49	chr12:49335400-49340600	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:49335400-49345800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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