Variant report

Variant	rs11849946
Chromosome Location	chr14:68735152-68735153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68730539..68732765-chr14:68733747..68736318,2	MCF-7	breast:
2	chr14:68722990..68725291-chr14:68734778..68737297,2	MCF-7	breast:
3	chr14:68721740..68724191-chr14:68734621..68736208,2	MCF-7	breast:
4	chr14:68728077..68730051-chr14:68734736..68736706,2	MCF-7	breast:
5	chr14:68734276..68737012-chr14:68743679..68745612,2	K562	blood:
6	chr14:68725397..68727137-chr14:68733335..68735181,2	MCF-7	breast:
7	chr14:68734764..68737197-chr14:69278376..69281274,2	MCF-7	breast:
8	chr14:68734676..68737143-chr14:69261157..69263317,4	MCF-7	breast:
9	chr14:68734020..68736291-chr14:68738963..68740608,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

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

rs_ID	r²[population]
rs11846733	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847821	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105291	0.96[AFR][1000 genomes]
rs1957571	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899235	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902563	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60324261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61274387	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68722400-68739800	Weak transcription	Gastric	stomach
2	chr14:68723400-68736000	Weak transcription	Aorta	Aorta
3	chr14:68729200-68749400	Weak transcription	Lung	lung
4	chr14:68730000-68745000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:68731000-68735600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:68731200-68735400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:68731200-68735400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:68731200-68735600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:68731200-68736000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:68731400-68736400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:68731600-68735600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:68731600-68735800	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:68731600-68746000	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:68731800-68735800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:68731800-68749000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:68732000-68741800	Enhancers	Primary B cells from cord blood	blood
17	chr14:68732600-68743600	Enhancers	Primary T cells from cord blood	blood
18	chr14:68732800-68736200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:68732800-68736400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:68732800-68736400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:68732800-68736600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:68732800-68740400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:68733200-68736200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:68733600-68735600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr14:68733600-68736200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr14:68733800-68736600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:68733800-68737000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr14:68734000-68739200	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:68734200-68735600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:68734200-68736200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr14:68734200-68742600	Enhancers	Fetal Lung	lung
32	chr14:68734400-68736200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:68734400-68736600	Enhancers	Adipose Nuclei	Adipose
34	chr14:68734400-68736800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr14:68734400-68736800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:68734400-68738000	Enhancers	Fetal Kidney	kidney
37	chr14:68734400-68739200	Enhancers	Colon Smooth Muscle	Colon
38	chr14:68734600-68735200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:68734600-68735200	Enhancers	Fetal Heart	heart
40	chr14:68734600-68735400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr14:68734600-68735800	Enhancers	Fetal Intestine Large	intestine
42	chr14:68734600-68736000	Enhancers	Fetal Intestine Small	intestine
43	chr14:68734600-68736200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr14:68734600-68736200	Flanking Active TSS	GM12878-XiMat	blood
45	chr14:68734600-68736400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr14:68734600-68736400	Enhancers	Small Intestine	intestine
47	chr14:68734600-68736800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:68734600-68736800	Enhancers	Fetal Thymus	thymus
49	chr14:68734600-68737600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:68734600-68739200	Enhancers	Fetal Stomach	stomach

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