Variant report

Variant	rs11543194
Chromosome Location	chr4:2733948-2733949
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2684900..2686631-chr4:2732347..2735002,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4967	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv593434	chr4:2688719-2737140	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2704600-2747800	Weak transcription	Hela-S3	cervix
2	chr4:2705400-2736600	Weak transcription	Fetal Kidney	kidney
3	chr4:2714400-2736600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:2715600-2736000	Strong transcription	Fetal Intestine Large	intestine
5	chr4:2716600-2737000	Strong transcription	Fetal Stomach	stomach
6	chr4:2716600-2737600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:2716600-2744600	Weak transcription	Stomach Mucosa	stomach
8	chr4:2717000-2736600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr4:2722600-2737600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:2723800-2743600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:2724000-2747600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:2724200-2734600	Weak transcription	Primary B cells from cord blood	blood
13	chr4:2724200-2735600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:2724400-2734400	Weak transcription	HSMM	muscle
15	chr4:2724400-2738000	Weak transcription	Brain Angular Gyrus	brain
16	chr4:2724600-2737600	Weak transcription	Fetal Brain Male	brain
17	chr4:2724600-2748600	Weak transcription	Small Intestine	intestine
18	chr4:2725400-2735200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:2725600-2736400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:2726600-2734800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:2726800-2737800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:2727400-2735600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr4:2728000-2736200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:2728800-2736600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:2729000-2736200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:2729400-2734200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:2729400-2735800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:2729400-2736800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:2729800-2735800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr4:2730000-2734600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:2730000-2736200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:2730400-2735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:2730600-2734600	Strong transcription	Lung	lung
34	chr4:2730600-2735600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:2730600-2735800	Strong transcription	Fetal Intestine Small	intestine
36	chr4:2730600-2736000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:2730600-2736000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:2730600-2736000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:2730600-2736200	Strong transcription	Fetal Lung	lung
40	chr4:2730600-2736600	Strong transcription	Thymus	Thymus
41	chr4:2730600-2737000	Strong transcription	Fetal Muscle Leg	muscle
42	chr4:2730800-2735200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:2730800-2735600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:2730800-2735600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:2730800-2735600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr4:2730800-2735800	Strong transcription	Brain Germinal Matrix	brain
47	chr4:2730800-2736600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:2730800-2737400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:2731000-2735400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:2731000-2735600	Strong transcription	Brain Inferior Temporal Lobe	brain

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