Variant report

Variant	rs2104128
Chromosome Location	chr11:34330440-34330441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34330140..34331933-chr11:34345300..34347720,2	K562	blood:
2	chr11:34328956..34331154-chr11:34336268..34338352,2	K562	blood:
3	chr11:34295969..34298454-chr11:34328816..34331408,3	MCF-7	breast:
4	chr11:34329413..34331132-chr11:34333216..34335602,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1622989	0.83[ASN][1000 genomes]
rs2025082	0.86[ASN][1000 genomes]
rs4755367	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34322200-34337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:34323400-34331600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:34323400-34331800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:34323800-34334200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:34324600-34335000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:34324600-34336200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:34325000-34330600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:34325200-34330600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:34325200-34330800	Weak transcription	Fetal Heart	heart
10	chr11:34325800-34330600	Weak transcription	Fetal Lung	lung
11	chr11:34326600-34330600	Weak transcription	Left Ventricle	heart
12	chr11:34327000-34331800	Weak transcription	Fetal Brain Male	brain
13	chr11:34327200-34330600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:34327200-34330600	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:34327200-34330600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:34327200-34331600	Weak transcription	Fetal Brain Female	brain
17	chr11:34327200-34335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:34327200-34340400	Weak transcription	Gastric	stomach
19	chr11:34328400-34331400	Enhancers	Placenta	Placenta
20	chr11:34328600-34332400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr11:34328600-34333000	Enhancers	Liver	Liver
22	chr11:34328800-34331200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:34329000-34330800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:34329000-34331000	Enhancers	NHEK	skin
25	chr11:34329000-34331200	Enhancers	HMEC	breast
26	chr11:34329000-34331400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:34329000-34331600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:34329000-34331600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:34329000-34332000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:34329200-34330600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:34329200-34330600	Weak transcription	Fetal Kidney	kidney
32	chr11:34329200-34330800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:34329200-34331400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:34329200-34332000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:34329600-34330600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:34329600-34330600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:34329600-34330600	Enhancers	NHDF-Ad	bronchial
38	chr11:34329600-34331200	Enhancers	Osteobl	bone
39	chr11:34329600-34331400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:34329600-34332000	Enhancers	Primary T cells from cord blood	blood
41	chr11:34329600-34332200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:34329600-34332400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:34329600-34332600	Enhancers	A549	lung
44	chr11:34329600-34332800	Enhancers	Hela-S3	cervix
45	chr11:34329800-34330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:34329800-34330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:34329800-34331000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:34329800-34331000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:34329800-34331000	Enhancers	GM12878-XiMat	blood
50	chr11:34329800-34331000	Enhancers	NH-A	brain

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