Variant report

Variant	rs7123885
Chromosome Location	chr11:65064706-65064707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65063934..65065977-chr11:65080966..65082674,3	K562	blood:
2	chr11:65060667..65062839-chr11:65063520..65067022,4	K562	blood:
3	chr11:65064621..65066242-chr11:65072875..65075856,2	MCF-7	breast:
4	chr11:65063282..65064937-chr11:65083373..65085177,2	K562	blood:
5	chr11:65062994..65065598-chr11:65067029..65069145,2	MCF-7	breast:
6	chr11:65051019..65054457-chr11:65064640..65066538,3	K562	blood:
7	chr11:65063249..65064766-chr11:65069700..65072312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000014138	Chromatin interaction
ENSG00000149798	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11819804	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821423	1.00[AMR][1000 genomes]
rs11821851	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823327	1.00[AMR][1000 genomes]
rs11824738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824827	1.00[AMR][1000 genomes]
rs11826426	1.00[AMR][1000 genomes]
rs11826954	1.00[AMR][1000 genomes]
rs34286323	1.00[AMR][1000 genomes]
rs35225270	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41544519	0.92[AFR][1000 genomes]
rs41556122	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58771438	1.00[AMR][1000 genomes]
rs7107815	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7108941	0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114046	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121464	1.00[AMR][1000 genomes]
rs73484944	1.00[AMR][1000 genomes]
rs73484972	1.00[AMR][1000 genomes]
rs7926687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7927821	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS 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	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65031200-65064800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:65042400-65068800	Strong transcription	Fetal Thymus	thymus
3	chr11:65042800-65065000	Strong transcription	Primary T cells from cord blood	blood
4	chr11:65042800-65072800	Strong transcription	Dnd41	blood
5	chr11:65043000-65066200	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr11:65043000-65067600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:65043200-65066400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:65043200-65066600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:65043400-65067200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr11:65043400-65067200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:65043600-65065000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:65044000-65065600	Strong transcription	Thymus	Thymus
13	chr11:65044400-65066200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:65045000-65066600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:65045600-65065200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:65045800-65067200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:65046000-65067000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:65047600-65064800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:65047800-65075800	Weak transcription	Small Intestine	intestine
20	chr11:65048400-65065000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:65048400-65069000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:65052400-65066600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:65053200-65066200	Strong transcription	HMEC	breast
24	chr11:65053200-65067000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:65053600-65066400	Strong transcription	NHEK	skin
26	chr11:65054200-65065000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:65054200-65065000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:65054600-65066000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:65056000-65068800	Genic enhancers	Fetal Stomach	stomach
30	chr11:65057200-65065600	Weak transcription	Aorta	Aorta
31	chr11:65057400-65065400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:65057400-65065400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:65058600-65067200	Genic enhancers	Fetal Intestine Small	intestine
34	chr11:65059000-65067200	Strong transcription	Fetal Brain Female	brain
35	chr11:65059200-65067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:65059200-65067200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:65059600-65066400	Strong transcription	Brain Germinal Matrix	brain
38	chr11:65060000-65064800	Weak transcription	Psoas Muscle	Psoas
39	chr11:65060000-65065600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:65060000-65068600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:65060000-65069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:65060200-65065000	Strong transcription	K562	blood
43	chr11:65060200-65065600	Enhancers	Colon Smooth Muscle	Colon
44	chr11:65060200-65065800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:65060200-65066000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:65060200-65067600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:65060400-65068400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:65060600-65066000	Strong transcription	Gastric	stomach
49	chr11:65060600-65069000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:65060800-65065800	Strong transcription	Duodenum Mucosa	Duodenum

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